rs45575636

minus

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

Reference

GRCh38 38.1/142

Chromosome

7

Position

87431528

Gene

ABCB4

is a	snp
is	mentioned by
dbSNP	rs45575636
dbSNP (classic)	rs45575636
ClinGen	rs45575636
ebi	rs45575636
HLI	rs45575636
Exac	rs45575636
Gnomad	rs45575636
Varsome	rs45575636
LitVar	rs45575636
Map	rs45575636
PheGenI	rs45575636
Biobank	rs45575636
1000 genomes	rs45575636
hgdp	rs45575636
ensembl	rs45575636
geneview	rs45575636
scholar	rs45575636
google	rs45575636
pharmgkb	rs45575636
gwascentral	rs45575636
openSNP	rs45575636
23andMe	rs45575636
SNPshot	rs45575636
SNPdbe	rs45575636
MSV3d	rs45575636
GWAS Ctlg	rs45575636

GMAF

0.007346

Max Magnitude

2.8

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.

OMIM	171060
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs45575636(A;A)
Alt	Rs45575636(A;A)
Reference	Rs45575636(G;G)
Significance	Other
Disease	Cholestasis Cholecystitis not specified
Variation	info
Gene	ABCB4
CLNDBN	Cholestasis, intrahepatic, of pregnancy 3 Cholecystitis not specified
Reversed	1
HGVS	NC_000007.13:g.87060844C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014696.26, RCV000033067.20, RCV000249752.2,