chr10:124214448:G>T Detail (hg19) (ARMS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:124,214,448-124,214,448 |
| hg38 | chr10:122,454,932-122,454,932 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001099667.1:c.205G>T | NP_001093137.1:p.Ala69Ser |
| Ensemble | ENST00000528446.1:c.205G>T | ENST00000528446.1:p.Ala69Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.357 |
| ToMMo:0.352 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.416 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-03-06 | criteria provided, single submitter | age related macular degeneration 8 |
germline
|
Detail |
|
Benign
|
2019-10-17 | criteria provided, single submitter | not provided |
germline
not provided
unknown
|
Detail |
|
Benign
|
2019-09-11 | criteria provided, single submitter | ARMS2-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.319 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.480 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.021 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.005 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.480 | age related macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.404 | age related macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| 0.404 | age related macular degeneration | Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-rel... | BeFree | 18061132 | Detail |
| 0.404 | age related macular degeneration | From these efforts, we report the identification of two novel protective factors... | GWASCAT | 20861866 | Detail |
| 0.404 | age related macular degeneration | Genome-wide association study of advanced age-related macular degeneration ident... | GWASCAT | 20385826 | Detail |
| 0.404 | age related macular degeneration | The AMD cases possessing the LOC387715 (rs10490924) variant may have a higher ri... | BeFree | 17210853 | Detail |
| 0.404 | age related macular degeneration | To determine whether gene polymorphisms of the major genetic risk factor for age... | BeFree | 21151600 | Detail |
| 0.404 | age related macular degeneration | The final model included the following independent variables: age, smoking histo... | BeFree | 21825180 | Detail |
| 0.404 | age related macular degeneration | In this large GWAS meta-analysis and replication analysis, the ARMS2/HTRA1 locus... | GWASCAT | 22705344 | Detail |
| 0.120 | MACULAR DEGENERATION, AGE-RELATED, 8 | NA | CLINVAR | Detail | |
| 0.404 | age related macular degeneration | LOC387715 rs10490924 was associated with PCV and its clinical manifestations, an... | BeFree | 22509112 | Detail |
| 0.404 | age related macular degeneration | Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and t... | BeFree | 24781946 | Detail |
| 0.128 | Exudative age-related macular degeneration | Further support for the common variants in complement factor H (Y402H) and LOC38... | BeFree | 16954704 | Detail |
| 0.480 | age related macular degeneration | Abnormal regulation of the complement system likely caused by the Y402H polymorp... | BeFree | 17576744 | Detail |
| 0.480 | age related macular degeneration | Highly myopic elderly Japanese patients with and without CNV were genotyped for ... | BeFree | 19680273 | Detail |
| 0.404 | age related macular degeneration | Abnormal regulation of the complement system likely caused by the Y402H polymorp... | BeFree | 17576744 | Detail |
| 0.128 | Exudative age-related macular degeneration | To investigate whether the A69S variant of the age-related maculopathy susceptib... | BeFree | 22219653 | Detail |
| 0.480 | age related macular degeneration | Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and t... | BeFree | 24781946 | Detail |
| 0.128 | Exudative age-related macular degeneration | A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc... | BeFree | 22293892 | Detail |
| 0.404 | age related macular degeneration | Association between variants A69S in ARMS2 gene and response to treatment of exu... | BeFree | 25185256 | Detail |
| 0.404 | age related macular degeneration | Seven new loci associated with age-related macular degeneration. | GWASCAT | 23455636 | Detail |
| 0.007 | macular degeneration | After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associat... | BeFree | 22491416 | Detail |
| 0.404 | age related macular degeneration | Many single-nucleotide polymorphisms (SNPs), including the previously reported v... | BeFree | 18164066 | Detail |
| 0.404 | age related macular degeneration | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rela... | GWASCAT | 21665990 | Detail |
| 0.267 | age related macular degeneration | SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene showed a highly sign... | BeFree | 19259132 | Detail |
| 0.480 | age related macular degeneration | To investigate whether the major genetic and environmental risk factors of age-r... | BeFree | 20688737 | Detail |
| 0.404 | age related macular degeneration | Common variants and haplotypes within the RORA gene appear to act synergisticall... | BeFree | 21060049 | Detail |
| 0.005 | macular degeneration | The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containin... | BeFree | 18164066 | Detail |
| 0.128 | Exudative age-related macular degeneration | After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associat... | BeFree | 23326481 | Detail |
| 0.007 | macular degeneration | The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with di... | BeFree | 18054635 | Detail |
| 0.003 | age related macular degeneration | Common variants and haplotypes within the RORA gene appear to act synergisticall... | BeFree | 21060049 | Detail |
| 0.480 | age related macular degeneration | The highest risk was observed in those doubly homozygous for rs10490924 and rs10... | BeFree | 23098369 | Detail |
| 0.267 | age related macular degeneration | Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly ass... | BeFree | 21906714 | Detail |
| 0.404 | age related macular degeneration | [The significant association is retained following multivariate analysis with ad... | GAD | 20157618 | Detail |
| 0.480 | age related macular degeneration | The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CF... | BeFree | 23111182 | Detail |
| 0.131 | Exudative age-related macular degeneration | A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc... | BeFree | 22293892 | Detail |
| 0.404 | age related macular degeneration | Multifactor effects and evidence of potential interaction between complement fac... | BeFree | 19048105 | Detail |
| 0.404 | age related macular degeneration | Association of CFH Y402H and LOC387715 A69S with progression of age-related macu... | BeFree | 17456821 | Detail |
| 0.128 | Exudative age-related macular degeneration | A study was undertaken to investigate the association between A69S in age-relate... | BeFree | 25185256 | Detail |
| 0.404 | age related macular degeneration | Furthermore, an independent association of C2/CFB variants was found for both ty... | BeFree | 22232432 | Detail |
| 0.404 | age related macular degeneration | Allele and genotype frequencies of single nucleotide polymorphisms for the follo... | BeFree | 19001225 | Detail |
| 0.319 | age related macular degeneration | Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and ... | BeFree | 21169531 | Detail |
| 0.404 | age related macular degeneration | ARMS2 A69S genotype is associated with second-eye involvement of exudative AMD a... | BeFree | 22809783 | Detail |
| 0.404 | age related macular degeneration | Genetic risk was based on Y402H in complement factor H (CFH) and A69S in age-rel... | BeFree | 26354764 | Detail |
| 0.185 | age related macular degeneration | In this Korean neovascular AMD cohort, treatment outcome after anti-VEGF was fou... | BeFree | 25558172 | Detail |
| 0.480 | age related macular degeneration | Multifactor effects and evidence of potential interaction between complement fac... | BeFree | 19048105 | Detail |
| 0.404 | age related macular degeneration | SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene showed a highly sign... | BeFree | 19259132 | Detail |
| 0.007 | Geographic Atrophy | Although genetic markers were associated significantly with 3-year CNV (CFH: Y40... | BeFree | 22704140 | Detail |
| 0.131 | Exudative age-related macular degeneration | Further support for the common variants in complement factor H (Y402H) and LOC38... | BeFree | 16954704 | Detail |
| 0.404 | age related macular degeneration | The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with di... | BeFree | 18054635 | Detail |
| 0.404 | age related macular degeneration | This showed an association with the well-established AMD risk loci ARMS2 (age-re... | GWASCAT | 22694956 | Detail |
| 0.007 | macular degeneration | Many single-nucleotide polymorphisms (SNPs), including the previously reported v... | BeFree | 18164066 | Detail |
| 0.404 | age related macular degeneration | To investigate whether the major genetic and environmental risk factors of age-r... | BeFree | 20688737 | Detail |
| 0.022 | age related macular degeneration | We demonstrate, by evaluating 45 tag SNPs spanning HTRA1, PLEKHA1, and predicted... | BeFree | 17884985 | Detail |
| 0.404 | age related macular degeneration | 1093 patients with exudative AMD and 396 controls have been recruited and genoty... | BeFree | 21621535 | Detail |
| 0.404 | age related macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.404 | age related macular degeneration | Genome-wide significant main effects were detected at three known AMD loci: CFH ... | GWASCAT | 23577725 | Detail |
| 0.404 | age related macular degeneration | The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated ... | BeFree | 23582991 | Detail |
| 0.404 | age related macular degeneration | To explore the association between polymorphisms in the complement component 3 (... | BeFree | 19168221 | Detail |
| 0.404 | age related macular degeneration | Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, ... | BeFree | 23289807 | Detail |
| 0.404 | age related macular degeneration | To confirm association of the complement factor H allelic variant (CFH Y402H) an... | BeFree | 18161619 | Detail |
| 0.404 | age related macular degeneration | Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related... | BeFree | 22706242 | Detail |
| 0.128 | Exudative age-related macular degeneration | New loci and coding variants confer risk for age-related macular degeneration in... | GWASCAT | 25629512 | Detail |
| 0.010 | Geographic Atrophy | Although genetic markers were associated significantly with 3-year CNV (CFH: Y40... | BeFree | 22704140 | Detail |
| 0.267 | age related macular degeneration | The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containin... | BeFree | 18164066 | Detail |
| 0.017 | age related macular degeneration | Combined effects on the likelihood of early or late AMD were demonstrated for th... | BeFree | 17675241 | Detail |
| 0.010 | Geographic Atrophy | Analyzing the currently largest dataset on GA lesion growth (N = 388), our findi... | BeFree | 25962167 | Detail |
| 0.010 | Geographic Atrophy | In this series, in patients with geographic atrophy or choroidal neovascularizat... | BeFree | 22481475 | Detail |
| 0.404 | age related macular degeneration | Second, in support of previous reports we also show that the ARMS2 rs10490924:T ... | BeFree | 23103884 | Detail |
| 0.480 | age related macular degeneration | 1093 patients with exudative AMD and 396 controls have been recruited and genoty... | BeFree | 21621535 | Detail |
| 0.007 | macular degeneration | ARMS2 A69S genotype is associated with second-eye involvement of exudative AMD a... | BeFree | 22809783 | Detail |
| 0.404 | age related macular degeneration | Genotyping was performed for the Y402H variant of CFH, for the L9H, R32Q, and K5... | BeFree | 23112567 | Detail |
| 0.404 | age related macular degeneration | Highly myopic elderly Japanese patients with and without CNV were genotyped for ... | BeFree | 19680273 | Detail |
| 0.012 | Geographic Atrophy | Comparing combined CNV-GA to GA and CNV only, patients with both had a higher fr... | BeFree | 22699975 | Detail |
| 0.480 | age related macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| 0.007 | macular degeneration | After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs4296... | BeFree | 24865191 | Detail |
| 0.480 | age related macular degeneration | To explore the association between polymorphisms in the complement component 3 (... | BeFree | 19168221 | Detail |
| 0.480 | age related macular degeneration | Furthermore, an independent association of C2/CFB variants was found for both ty... | BeFree | 22232432 | Detail |
| 0.404 | age related macular degeneration | This was true for all AMD subtype analyses of both rs800292 (complement factor H... | BeFree | 22065928 | Detail |
| 0.404 | age related macular degeneration | After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs4296... | BeFree | 24865191 | Detail |
| 0.480 | age related macular degeneration | The presence or absence of RPD was studied among 408 patients with exudative AMD... | BeFree | 24595987 | Detail |
| 0.003 | diabetic retinopathy | In HTRA1, rs11200638 (G>A), showed marginal significance with DR (P = 0.055) ... | BeFree | 21067572 | Detail |
| 0.267 | age related macular degeneration | Allele and genotype frequencies of single nucleotide polymorphisms for the follo... | BeFree | 19001225 | Detail |
| 0.404 | age related macular degeneration | Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and ... | BeFree | 21169531 | Detail |
| <0.001 | Retinal Pigment Epithelial Detachment | In particular, the at-risk allele homozygosity of ARMS2 A69S increased the likel... | BeFree | 21397333 | Detail |
| 0.480 | age related macular degeneration | In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170... | BeFree | 23302509 | Detail |
| 0.404 | age related macular degeneration | Difference between age-related macular degeneration and polypoidal choroidal vas... | BeFree | 22219653 | Detail |
| 0.002 | Drusen | Multivariate analyses identified a significant association in serum calcium leve... | BeFree | 25792034 | Detail |
| 0.319 | age related macular degeneration | Allele and genotype frequencies of single nucleotide polymorphisms for the follo... | BeFree | 19001225 | Detail |
| 0.404 | age related macular degeneration | In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170... | BeFree | 23302509 | Detail |
| 0.480 | age related macular degeneration | Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, ... | BeFree | 17210852 | Detail |
| <0.001 | Photopsia | Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490... | BeFree | 24067115 | Detail |
| 0.267 | age related macular degeneration | Highly myopic elderly Japanese patients with and without CNV were genotyped for ... | BeFree | 19680273 | Detail |
| 0.404 | age related macular degeneration | The ARMS2 A69S variant and bilateral advanced age-related macular degeneration. | BeFree | 22481475 | Detail |
| 0.404 | age related macular degeneration | After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associat... | BeFree | 22491416 | Detail |
| 0.480 | age related macular degeneration | Association of CFH Y402H and LOC387715 A69S with progression of age-related macu... | BeFree | 17456821 | Detail |
| 0.480 | age related macular degeneration | Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related... | BeFree | 22706242 | Detail |
| 0.404 | age related macular degeneration | Among eyes with exudative AMD, RPD is more common in eyes with RAP having a thin... | BeFree | 24595987 | Detail |
| 0.267 | age related macular degeneration | We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -5... | BeFree | 18682806 | Detail |
| 0.404 | age related macular degeneration | Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, ... | BeFree | 17210852 | Detail |
| 0.480 | age related macular degeneration | To determine whether gene polymorphisms of the major genetic risk factor for age... | BeFree | 21151600 | Detail |
| 0.404 | age related macular degeneration | To investigate whether dietary nutrients can reduce the genetic risk of early ag... | BeFree | 21670343 | Detail |
| 0.480 | age related macular degeneration | Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and ... | BeFree | 22293892 | Detail |
| 0.011 | macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| 0.404 | age related macular degeneration | Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly ass... | BeFree | 21906714 | Detail |
| 0.007 | macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| 0.480 | age related macular degeneration | Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-rela... | BeFree | 24865191 | Detail |
| <0.001 | Photopsia | Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490... | BeFree | 24067115 | Detail |
| 0.480 | age related macular degeneration | The final model included the following independent variables: age, smoking histo... | BeFree | 21825180 | Detail |
| 0.007 | macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.007 | macular degeneration | Our meta-analysis provides substantial evidence that the ARMS2 A69S variant conf... | BeFree | 22219653 | Detail |
| <0.001 | Serous retinal detachment | However, the at-risk allele of ARMS2 A69S was associated with a lower incidence ... | BeFree | 21397333 | Detail |
| 0.267 | age related macular degeneration | The ARMS2/HTRA1 genes at the 10q26 locus have been associated with risk of age-r... | BeFree | 23592919 | Detail |
| 0.011 | macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.480 | age related macular degeneration | Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, ... | BeFree | 23289807 | Detail |
| 0.007 | macular degeneration | Association between variants A69S in ARMS2 gene and response to treatment of exu... | BeFree | 25185256 | Detail |
| 0.267 | age related macular degeneration | The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated ... | BeFree | 23582991 | Detail |
| 0.195 | age related macular degeneration | We investigated the frequency of Tyr402His polymorphism of the complement factor... | BeFree | 19845562 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) AND Age related macular degeneration 8 | ClinVar | Detail |
| NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) AND not provided | ClinVar | Detail |
| NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) AND ARMS2-related disorder | ClinVar | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degener... | DisGeNET | Detail |
| From these efforts, we report the identification of two novel protective factors for AMD and confirm... | DisGeNET | Detail |
| Genome-wide association study of advanced age-related macular degeneration identifies a role of the ... | DisGeNET | Detail |
| The AMD cases possessing the LOC387715 (rs10490924) variant may have a higher risk of neovascular AM... | DisGeNET | Detail |
| To determine whether gene polymorphisms of the major genetic risk factor for age-related macular sus... | DisGeNET | Detail |
| The final model included the following independent variables: age, smoking history, family history o... | DisGeNET | Detail |
| In this large GWAS meta-analysis and replication analysis, the ARMS2/HTRA1 locus confers increased r... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| LOC387715 rs10490924 was associated with PCV and its clinical manifestations, and showed a discrepan... | DisGeNET | Detail |
| Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significan... | DisGeNET | Detail |
| Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as... | DisGeNET | Detail |
| Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the compleme... | DisGeNET | Detail |
| Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated... | DisGeNET | Detail |
| Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the compleme... | DisGeNET | Detail |
| To investigate whether the A69S variant of the age-related maculopathy susceptibility 2 gene (ARMS2)... | DisGeNET | Detail |
| Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significan... | DisGeNET | Detail |
| A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac... | DisGeNET | Detail |
| Association between variants A69S in ARMS2 gene and response to treatment of exudative AMD: a meta-a... | DisGeNET | Detail |
| Seven new loci associated with age-related macular degeneration. | DisGeNET | Detail |
| After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with exudative AM... | DisGeNET | Detail |
| Many single-nucleotide polymorphisms (SNPs), including the previously reported variants rs10490924 (... | DisGeNET | Detail |
| Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenera... | DisGeNET | Detail |
| SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene showed a highly significant association ... | DisGeNET | Detail |
| To investigate whether the major genetic and environmental risk factors of age-related macular degen... | DisGeNET | Detail |
| Common variants and haplotypes within the RORA gene appear to act synergistically with the ARMS2 A69... | DisGeNET | Detail |
| The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs1... | DisGeNET | Detail |
| After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with nAMD and PCV... | DisGeNET | Detail |
| The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with differences in choroid... | DisGeNET | Detail |
| Common variants and haplotypes within the RORA gene appear to act synergistically with the ARMS2 A69... | DisGeNET | Detail |
| The highest risk was observed in those doubly homozygous for rs10490924 and rs1061170 in CFH (OR, 62... | DisGeNET | Detail |
| Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an incr... | DisGeNET | Detail |
| [The significant association is retained following multivariate analysis with adjustment for age, sm... | DisGeNET | Detail |
| The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CFH I62V rs800292, and... | DisGeNET | Detail |
| A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac... | DisGeNET | Detail |
| Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC3... | DisGeNET | Detail |
| Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. | DisGeNET | Detail |
| A study was undertaken to investigate the association between A69S in age-related maculopathy suscep... | DisGeNET | Detail |
| Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV wi... | DisGeNET | Detail |
| Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... | DisGeNET | Detail |
| Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and C3 R102G have been s... | DisGeNET | Detail |
| ARMS2 A69S genotype is associated with second-eye involvement of exudative AMD and with the period b... | DisGeNET | Detail |
| Genetic risk was based on Y402H in complement factor H (CFH) and A69S in age-related maculopathy sus... | DisGeNET | Detail |
| In this Korean neovascular AMD cohort, treatment outcome after anti-VEGF was found to differ by the ... | DisGeNET | Detail |
| Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC3... | DisGeNET | Detail |
| SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene showed a highly significant association ... | DisGeNET | Detail |
| Although genetic markers were associated significantly with 3-year CNV (CFH: Y402H; ARMS2: A69S) and... | DisGeNET | Detail |
| Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as... | DisGeNET | Detail |
| The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with differences in choroid... | DisGeNET | Detail |
| This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy su... | DisGeNET | Detail |
| Many single-nucleotide polymorphisms (SNPs), including the previously reported variants rs10490924 (... | DisGeNET | Detail |
| To investigate whether the major genetic and environmental risk factors of age-related macular degen... | DisGeNET | Detail |
| We demonstrate, by evaluating 45 tag SNPs spanning HTRA1, PLEKHA1, and predicted gene LOC387715/ARMS... | DisGeNET | Detail |
| 1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| Genome-wide significant main effects were detected at three known AMD loci: CFH (P = 7.51×10(-30) ),... | DisGeNET | Detail |
| The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated with a poorer visual... | DisGeNET | Detail |
| To explore the association between polymorphisms in the complement component 3 (C3) gene and age-rel... | DisGeNET | Detail |
| Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variant... | DisGeNET | Detail |
| To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA... | DisGeNET | Detail |
| Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneratio... | DisGeNET | Detail |
| New loci and coding variants confer risk for age-related macular degeneration in East Asians. | DisGeNET | Detail |
| Although genetic markers were associated significantly with 3-year CNV (CFH: Y402H; ARMS2: A69S) and... | DisGeNET | Detail |
| The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs1... | DisGeNET | Detail |
| Combined effects on the likelihood of early or late AMD were demonstrated for the LOC387715 Ala69Ser... | DisGeNET | Detail |
| Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a signif... | DisGeNET | Detail |
| In this series, in patients with geographic atrophy or choroidal neovascularization in at least 1 ey... | DisGeNET | Detail |
| Second, in support of previous reports we also show that the ARMS2 rs10490924:T allele is significan... | DisGeNET | Detail |
| 1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of... | DisGeNET | Detail |
| ARMS2 A69S genotype is associated with second-eye involvement of exudative AMD and with the period b... | DisGeNET | Detail |
| Genotyping was performed for the Y402H variant of CFH, for the L9H, R32Q, and K565E variants of CFB,... | DisGeNET | Detail |
| Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated... | DisGeNET | Detail |
| Comparing combined CNV-GA to GA and CNV only, patients with both had a higher frequency of at-risk a... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly... | DisGeNET | Detail |
| To explore the association between polymorphisms in the complement component 3 (C3) gene and age-rel... | DisGeNET | Detail |
| Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV wi... | DisGeNET | Detail |
| This was true for all AMD subtype analyses of both rs800292 (complement factor H) and rs10490924 (AR... | DisGeNET | Detail |
| After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly... | DisGeNET | Detail |
| The presence or absence of RPD was studied among 408 patients with exudative AMD in at least one eye... | DisGeNET | Detail |
| In HTRA1, rs11200638 (G>A), showed marginal significance with DR (P = 0.055) while rs10490924 in ... | DisGeNET | Detail |
| Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... | DisGeNET | Detail |
| Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and C3 R102G have been s... | DisGeNET | Detail |
| In particular, the at-risk allele homozygosity of ARMS2 A69S increased the likelihood for hemorrhagi... | DisGeNET | Detail |
| In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170) genes were signifi... | DisGeNET | Detail |
| Difference between age-related macular degeneration and polypoidal choroidal vasculopathy in the her... | DisGeNET | Detail |
| Multivariate analyses identified a significant association in serum calcium level (odds ratio [OR] =... | DisGeNET | Detail |
| Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... | DisGeNET | Detail |
| In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170) genes were signifi... | DisGeNET | Detail |
| Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, 1.98 (95% CI, 1.64-2... | DisGeNET | Detail |
| Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490924) polymorphisms a... | DisGeNET | Detail |
| Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated... | DisGeNET | Detail |
| The ARMS2 A69S variant and bilateral advanced age-related macular degeneration. | DisGeNET | Detail |
| After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with exudative AM... | DisGeNET | Detail |
| Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. | DisGeNET | Detail |
| Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneratio... | DisGeNET | Detail |
| Among eyes with exudative AMD, RPD is more common in eyes with RAP having a thin choroid at the fove... | DisGeNET | Detail |
| We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs104909... | DisGeNET | Detail |
| Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, 1.98 (95% CI, 1.64-2... | DisGeNET | Detail |
| To determine whether gene polymorphisms of the major genetic risk factor for age-related macular sus... | DisGeNET | Detail |
| To investigate whether dietary nutrients can reduce the genetic risk of early age-related macular de... | DisGeNET | Detail |
| Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and R38X (rs2736911) ARM... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an incr... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-related maculopathy susc... | DisGeNET | Detail |
| Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490924) polymorphisms a... | DisGeNET | Detail |
| The final model included the following independent variables: age, smoking history, family history o... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| Our meta-analysis provides substantial evidence that the ARMS2 A69S variant confers a significantly ... | DisGeNET | Detail |
| However, the at-risk allele of ARMS2 A69S was associated with a lower incidence of serous retinal de... | DisGeNET | Detail |
| The ARMS2/HTRA1 genes at the 10q26 locus have been associated with risk of age-related macular degen... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variant... | DisGeNET | Detail |
| Association between variants A69S in ARMS2 gene and response to treatment of exudative AMD: a meta-a... | DisGeNET | Detail |
| The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated with a poorer visual... | DisGeNET | Detail |
| We investigated the frequency of Tyr402His polymorphism of the complement factor H (CFH) gene, Ser69... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10490924 dbSNP
- Genome
- hg19
- Position
- chr10:124,214,448-124,214,448
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 107.09
- Standard deviation of sample read depth (HGVD)
- 49.38
- Number of reference allele (HGVD)
- 1554
- Number of alternative allele (HGVD)
- 862
- Allele Frequency (HGVD)
- 0.3567880794701987
- Gene Symbol (HGVD)
- ARMS2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs10490924
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3524
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5907
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8596
- East Asian Allele Counts (ExAC)
- 3576
- East Asian Heterozygous Counts (ExAC)
- 2106
- East Asian Homozygous Counts (ExAC)
- 735
- East Asian Allele Frequency (ExAC)
- 0.4160074453234062
- Chromosome Counts in All Race (ExAC)
- 120502
- Allele Counts in All Race (ExAC)
- 30730
- Heterozygous Counts in All Race (ExAC)
- 22478
- Homozygous Counts in All Race (ExAC)
- 4126
- Allele Frequency in All Race (ExAC)
- 0.2550165142487262
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