chr2:634905:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:634,905-634,905 View the variant detail on this assembly version. |
| hg38 | chr2:634,905-634,905 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.906 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
risk factor
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
risk factor
|
2019-12-26 | no assertion criteria provided | obesity |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.400 | obesity | Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313,... | BeFree | 24762112 | Detail |
| <0.001 | diabetes mellitus | We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associa... | BeFree | 22466342 | Detail |
| <0.001 | Diabetes | We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associa... | BeFree | 22466342 | Detail |
| 0.151 | obesity | Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313,... | BeFree | 24762112 | Detail |
| 0.162 | obesity | The SNP rs10913469 in SEC16B (P=0.000012) and four SNPs (rs2867125, rs6548238, r... | BeFree | 19851340 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000002.12:g.634905T>C AND Obesity | ClinVar | Detail |
| Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313, and TMEM18 rs654823... | DisGeNET | Detail |
| We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obe... | DisGeNET | Detail |
| We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obe... | DisGeNET | Detail |
| Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313, and TMEM18 rs654823... | DisGeNET | Detail |
| The SNP rs10913469 in SEC16B (P=0.000012) and four SNPs (rs2867125, rs6548238, rs4854344 and rs75613... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs6548238 dbSNP
- Genome
- hg38
- Position
- chr2:634,905-634,905
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs6548238
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9056
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15178
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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