rs121918443

Orientation

minus

Stabilized

minus

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

Make rs121918443(C;C)

Make rs121918443(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

87443686

Gene

ABCB4

is a	snp
is	mentioned by
dbSNP	rs121918443
dbSNP (classic)	rs121918443
ClinGen	rs121918443
ebi	rs121918443
HLI	rs121918443
Exac	rs121918443
Gnomad	rs121918443
Varsome	rs121918443
LitVar	rs121918443
Map	rs121918443
PheGenI	rs121918443
Biobank	rs121918443
1000 genomes	rs121918443
hgdp	rs121918443
ensembl	rs121918443
geneview	rs121918443
scholar	rs121918443
google	rs121918443
pharmgkb	rs121918443
gwascentral	rs121918443
openSNP	rs121918443
23andMe	rs121918443
SNPshot	rs121918443
SNPdbe	rs121918443
MSV3d	rs121918443
GWAS Ctlg	rs121918443

Max Magnitude

0

OMIM	171060
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918443(C;C)
Alt	rs121918443(C;C)
Reference	Rs121918443(T;T)
Significance	Pathogenic
Disease	Progressive familial intrahepatic cholestasis 3
Variation	info
Gene	ABCB4
CLNDBN	Progressive familial intrahepatic cholestasis 3
Reversed	1
HGVS	NC_000007.13:g.87073002A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014694.20,