Have questions? Visit https://www.reddit.com/r/SNPedia

rs45575636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.8 possible connection to intrahepatic cholestasis of pregnancy
(A;G) 2.2 possible connection to intrahepatic cholestasis of pregnancy
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/142
Chromosome7
Position87431528
GeneABCB4
is asnp
is mentioned by
dbSNPrs45575636
ebirs45575636
HLIrs45575636
Exacrs45575636
Varsomers45575636
Maprs45575636
PheGenIrs45575636
hapmaprs45575636
1000 genomesrs45575636
hgdprs45575636
ensemblrs45575636
gopubmedrs45575636
geneviewrs45575636
scholarrs45575636
googlers45575636
pharmgkbrs45575636
gwascentralrs45575636
openSNPrs45575636
23andMers45575636
23andMe allrs45575636
SNP Nexus

SNPshotrs45575636
SNPdbers45575636
MSV3drs45575636
GWAS Ctlgrs45575636
GMAF0.007346
Max Magnitude2.8

rs45575636, also known as c.1769G>A, p.Arg590Gln and R590Q, represents a variant in the ABCB4 gene on chromosome 7.

The clinical significance of the quite rare rs45575636(A) allele is reported as "uncertain" in ClinVar. This variant has been reported though to place a woman at between 2-fold to 16-fold higher risk for intrahepatic cholestasis of pregnancy, according to separate papers cited in OMIM 171060.0012.

OMIM171060
Desc
Variant0012
Relatedalso


ClinVar
Risk rs45575636(A;A)
Alt rs45575636(A;A)
Reference rs45575636(G;G)
Significance Pathogenic
Disease Cholestasis Cholecystitis not provided
Variation info
Gene ABCB4
CLNDBN Cholestasis, intrahepatic, of pregnancy 3 Cholecystitis not provided
Reversed 1
HGVS NC_000007.13:g.87060844C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014696.26, RCV000033067.20, RCV000174848.1,