rs121918440

Orientation

minus

Stabilized

minus

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

Make rs121918440(C;T)

Make rs121918440(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

87411948

Gene

ABCB4

is a	snp
is	mentioned by
dbSNP	rs121918440
dbSNP (classic)	rs121918440
ClinGen	rs121918440
ebi	rs121918440
HLI	rs121918440
Exac	rs121918440
Gnomad	rs121918440
Varsome	rs121918440
LitVar	rs121918440
Map	rs121918440
PheGenI	rs121918440
Biobank	rs121918440
1000 genomes	rs121918440
hgdp	rs121918440
ensembl	rs121918440
geneview	rs121918440
scholar	rs121918440
google	rs121918440
pharmgkb	rs121918440
gwascentral	rs121918440
openSNP	rs121918440
23andMe	rs121918440
SNPshot	rs121918440
SNPdbe	rs121918440
MSV3d	rs121918440
GWAS Ctlg	rs121918440

Max Magnitude

0

OMIM	171060
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918440(T;T)
Alt	rs121918440(T;T)
Reference	Rs121918440(C;C)
Significance	Pathogenic
Disease	Progressive familial intrahepatic cholestasis 3 Cholestasis
Variation	info
Gene	ABCB4
CLNDBN	Progressive familial intrahepatic cholestasis 3 Cholestasis, intrahepatic, of pregnancy 3
Reversed	1
HGVS	NC_000007.13:g.87041264G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014683.26, RCV000033063.25,