rs121909100

Orientation

minus

Stabilized

minus

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

Make rs121909100(C;C)

Make rs121909100(C;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

57669433

Gene	ATP8B1, LOC100505549

is a	snp
is	mentioned by
dbSNP	rs121909100
dbSNP (classic)	rs121909100
ClinGen	rs121909100
ebi	rs121909100
HLI	rs121909100
Exac	rs121909100
Gnomad	rs121909100
Varsome	rs121909100
LitVar	rs121909100
Map	rs121909100
PheGenI	rs121909100
Biobank	rs121909100
1000 genomes	rs121909100
hgdp	rs121909100
ensembl	rs121909100
geneview	rs121909100
scholar	rs121909100
google	rs121909100
pharmgkb	rs121909100
gwascentral	rs121909100
openSNP	rs121909100
23andMe	rs121909100
SNPshot	rs121909100
SNPdbe	rs121909100
MSV3d	rs121909100
GWAS Ctlg	rs121909100

Merged from

Rs28939686

Max Magnitude

0

OMIM	602397
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909100(C;C)
Alt	rs121909100(C;C)
Reference	Rs121909100(T;T)
Significance	Pathogenic
Disease	Cholestasis Progressive intrahepatic cholestasis
Variation	info
Gene	ATP8B1 LOC100505549
CLNDBN	Cholestasis, benign recurrent intrahepatic 1 Progressive intrahepatic cholestasis
Reversed	1
HGVS	NC_000018.9:g.55336665A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007689.5, RCV000007690.3,