rs2109505
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2109505(A;A) |
| Make rs2109505(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 87450090 |
| Gene | ABCB4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2109505 |
| dbSNP (classic) | rs2109505 |
| ClinGen | rs2109505 |
| ebi | rs2109505 |
| HLI | rs2109505 |
| Exac | rs2109505 |
| Gnomad | rs2109505 |
| Varsome | rs2109505 |
| LitVar | rs2109505 |
| Map | rs2109505 |
| PheGenI | rs2109505 |
| Biobank | rs2109505 |
| 1000 genomes | rs2109505 |
| hgdp | rs2109505 |
| ensembl | rs2109505 |
| geneview | rs2109505 |
| scholar | rs2109505 |
| rs2109505 | |
| pharmgkb | rs2109505 |
| gwascentral | rs2109505 |
| openSNP | rs2109505 |
| 23andMe | rs2109505 |
| SNPshot | rs2109505 |
| SNPdbe | rs2109505 |
| MSV3d | rs2109505 |
| GWAS Ctlg | rs2109505 |
| GMAF | 0.2475 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24366234
] A Comprehensive Analysis of Common Genetic Variation Around Six Candidate Loci for Intrahepatic Cholestasis of Pregnancy
| ClinVar | |
|---|---|
| Risk | rs2109505(A;A) |
| Alt | rs2109505(A;A) |
| Reference | Rs2109505(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Progressive intrahepatic cholestasis Familial Intrahepatic Cholestasis |
| Variation | info |
| Gene | ABCB4 |
| CLNDBN | not specified Progressive intrahepatic cholestasis Familial Intrahepatic Cholestasis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.87079406T>A |
| CLNSRC | |
| CLNACC | RCV000247989.3, RCV000275204.1, RCV000385962.1, |
