chr10:124219275:C>G Detail (hg19) (HTRA1)

Information

Genome

Assembly Position
hg19 chr10:124,219,275-124,219,275
hg38 chr10:122,459,759-122,459,759 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000648167.1:c.154+1050C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.360
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602194 OMIM
HGNC 9476 HGNC
Ensembl ENSG00000166033 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40934574 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
0.034 Choroidal Neovascularization [The findings indicate that the intergenic region between the tSNP rs3793917 and... GAD 20445115 Detail
0.267 age related macular degeneration Insights into the genetic architecture of early stage age-related macular degene... GWASCAT 23326517 Detail
0.267 age related macular degeneration Genetic variants near TIMP3 and high-density lipoprotein-associated loci influen... GWASCAT 20385819 Detail
0.012 Geographic Atrophy [The findings indicate that the intergenic region between the tSNP rs3793917 and... GAD 20445115 Detail
0.267 age related macular degeneration An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 ge... BeFree 20445115 Detail
Annotation

Annotations

DescrptionSourceLinks
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
[The findings indicate that the intergenic region between the tSNP rs3793917 and the SNP rs11200638 ... DisGeNET Detail
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wid... DisGeNET Detail
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to... DisGeNET Detail
[The findings indicate that the intergenic region between the tSNP rs3793917 and the SNP rs11200638 ... DisGeNET Detail
An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates associa... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3793917 dbSNP
Genome
hg19
Position
chr10:124,219,275-124,219,275
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs3793917
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3601
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6035
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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