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rs2287622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.8x higher risk for intrahepatic cholestasis of pregnancy
(C;T) 1.7x higher risk for intrahepatic cholestasis of pregnancy
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome2
Position168973818
GeneABCB11
is asnp
is mentioned by
dbSNPrs2287622
ebirs2287622
HLIrs2287622
Exacrs2287622
Varsomers2287622
Maprs2287622
PheGenIrs2287622
hapmaprs2287622
1000 genomesrs2287622
hgdprs2287622
ensemblrs2287622
gopubmedrs2287622
geneviewrs2287622
scholarrs2287622
googlers2287622
pharmgkbrs2287622
gwascentralrs2287622
openSNPrs2287622
23andMers2287622
23andMe allrs2287622
SNP Nexus

SNPshotrs2287622
SNPdbers2287622
MSV3drs2287622
GWAS Ctlgrs2287622
GMAF0.4059
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs2287622 is a SNP in the ATP-binding cassette, sub-family B (MDR/TAP), member 11 ABCB11 gene. The more common (T) allele encodes a Val, while the rarer (C) allele encodes a Ala; this SNP is also known as V444A or c.1331T>C.

In two intrahepatic cholestasis of pregnancy (ICP) cohorts (333 UK, 158 continental Europe), rs2287622 was associated with ICP (allelic odds ratio for C vs T 1.7 (CI: 1.4-2.1, p<0.0001). In addition, (C;C) homozygotes were more likely to have ICP than (T;T) homozygotes with and odds ratio of 2.8, (CI 1.7-4.4, p<0.0001). [PMID 18987030]


Venter snp
Source plos
Gene ABCB11
allele G
frequency 0.408
sift TOLERATED
HuRef 1103658283866
Disease Association Defects in ABCB11 are the cause of progressive familial intrahepatic cholestasis 2 (PFIC2) (MIM:601847). PFIC2 is an inherited liver disease of childhood which is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. Defects in ABCB11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease.



[PMID 18176959OA-icon.png] Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.


GET Evidence
ABCB11-V444A
aa_change Val444Ala
aa_change_short V444A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.602932
summary



[PMID 22522591] Genetic variations in bile acid homeostasis are not overrepresented in alcoholic cirrhosis compared to patients with heavy alcohol abuse and absent liver disease.


[PMID 25713208] No Contribution of the ABCB11 p.444A Polymorphism in Japanese Patients with Drug-induced Cholestasis


ClinVar
Risk rs2287622(C;C)
Alt rs2287622(C;C)
Reference rs2287622(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ABCB11
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.169830328A>G
CLNSRC
CLNACC RCV000174528.1,