rs387906381

Orientation

minus

Stabilized

minus

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

Make rs387906381(C;C)

Make rs387906381(C;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

57669316

Gene	ATP8B1, LOC100505549

is a	snp
is	mentioned by
dbSNP	rs387906381
dbSNP (classic)	rs387906381
ClinGen	rs387906381
ebi	rs387906381
HLI	rs387906381
Exac	rs387906381
Gnomad	rs387906381
Varsome	rs387906381
LitVar	rs387906381
Map	rs387906381
PheGenI	rs387906381
Biobank	rs387906381
1000 genomes	rs387906381
hgdp	rs387906381
ensembl	rs387906381
geneview	rs387906381
scholar	rs387906381
google	rs387906381
pharmgkb	rs387906381
gwascentral	rs387906381
openSNP	rs387906381
23andMe	rs387906381
SNPshot	rs387906381
SNPdbe	rs387906381
MSV3d	rs387906381
GWAS Ctlg	rs387906381

Max Magnitude

0

ClinVar
Risk	rs387906381(C;C)
Alt	rs387906381(C;C)
Reference	Rs387906381(T;T)
Significance	Pathogenic
Disease	Progressive intrahepatic cholestasis
Variation	info
Gene	ATP8B1 LOC100505549
CLNDBN	Progressive intrahepatic cholestasis
Reversed	1
HGVS	NC_000018.9:g.55336548A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007687.4,