rs113090017

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs113090017(A;A)

Make rs113090017(A;C)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

100532538

Gene

NR1H4

is a	snp
is	mentioned by
dbSNP	rs113090017
dbSNP (classic)	rs113090017
ClinGen	rs113090017
ebi	rs113090017
HLI	rs113090017
Exac	rs113090017
Gnomad	rs113090017
Varsome	rs113090017
LitVar	rs113090017
Map	rs113090017
PheGenI	rs113090017
Biobank	rs113090017
1000 genomes	rs113090017
hgdp	rs113090017
ensembl	rs113090017
geneview	rs113090017
scholar	rs113090017
google	rs113090017
pharmgkb	rs113090017
gwascentral	rs113090017
openSNP	rs113090017
23andMe	rs113090017
SNPshot	rs113090017
SNPdbe	rs113090017
MSV3d	rs113090017
GWAS Ctlg	rs113090017

Max Magnitude

0

ClinVar
Risk	rs113090017(A;A) rs113090017(G;G) rs113090017(T;T)
Alt	rs113090017(A;A) rs113090017(G;G) rs113090017(T;T)
Reference	Rs113090017(C;C)
Significance	Pathogenic
Disease	Cholestasis Progressive intrahepatic cholestasis
Variation	info
Gene	NR1H4
CLNDBN	Cholestasis, progressive familial intrahepatic, 5 Progressive intrahepatic cholestasis
Reversed	0
HGVS	NC_000012.11:g.100926316C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239570.1, RCV000240831.1,