rs17222723
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common on affy axiom data |
| Make rs17222723(A;A) |
| Make rs17222723(A;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 99836239 |
| Gene | ABCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17222723 |
| dbSNP (classic) | rs17222723 |
| ClinGen | rs17222723 |
| ebi | rs17222723 |
| HLI | rs17222723 |
| Exac | rs17222723 |
| Gnomad | rs17222723 |
| Varsome | rs17222723 |
| LitVar | rs17222723 |
| Map | rs17222723 |
| PheGenI | rs17222723 |
| Biobank | rs17222723 |
| 1000 genomes | rs17222723 |
| hgdp | rs17222723 |
| ensembl | rs17222723 |
| geneview | rs17222723 |
| scholar | rs17222723 |
| rs17222723 | |
| pharmgkb | rs17222723 |
| gwascentral | rs17222723 |
| openSNP | rs17222723 |
| 23andMe | rs17222723 |
| SNPshot | rs17222723 |
| SNPdbe | rs17222723 |
| MSV3d | rs17222723 |
| GWAS Ctlg | rs17222723 |
| GMAF | 0.0427 |
| Max Magnitude | 0 |
| ? | (A;T) (T;T) | |
|---|---|---|
|
| ||
[PMID 17997497] Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy.
[PMID 18176959
] Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.
[PMID 18395921] Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy.
[PMID 18926681] Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease.
| ClinVar | |
|---|---|
| Risk | rs17222723(A;A) |
| Alt | rs17222723(A;A) |
| Reference | Rs17222723(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Dubin-Johnson syndrome |
| Variation | info |
| Gene | ABCC2 |
| CLNDBN | Dubin-Johnson syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.101595996T>A |
| CLNSRC | |
| CLNACC | RCV000288970.1, |
