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rs113090017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113090017(A;A)
Make rs113090017(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position100532538
GeneNR1H4
is asnp
is mentioned by
dbSNPrs113090017
dbSNP (old)rs113090017
ClinGenrs113090017
ebirs113090017
HLIrs113090017
Exacrs113090017
Gnomadrs113090017
Varsomers113090017
Maprs113090017
PheGenIrs113090017
Biobankrs113090017
1000 genomesrs113090017
hgdprs113090017
ensemblrs113090017
gopubmedrs113090017
geneviewrs113090017
scholarrs113090017
googlers113090017
pharmgkbrs113090017
gwascentralrs113090017
openSNPrs113090017
23andMers113090017
23andMe allrs113090017
SNPshotrs113090017
SNPdbers113090017
MSV3drs113090017
GWAS Ctlgrs113090017
Max Magnitude0
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,