rs72552778

Orientation

minus

Stabilized

minus

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

Make rs72552778(C;T)

Make rs72552778(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

87447080

Gene

ABCB4

is a	snp
is	mentioned by
dbSNP	rs72552778
dbSNP (classic)	rs72552778
ClinGen	rs72552778
ebi	rs72552778
HLI	rs72552778
Exac	rs72552778
Gnomad	rs72552778
Varsome	rs72552778
LitVar	rs72552778
Map	rs72552778
PheGenI	rs72552778
Biobank	rs72552778
1000 genomes	rs72552778
hgdp	rs72552778
ensembl	rs72552778
geneview	rs72552778
scholar	rs72552778
google	rs72552778
pharmgkb	rs72552778
gwascentral	rs72552778
openSNP	rs72552778
23andMe	rs72552778
SNPshot	rs72552778
SNPdbe	rs72552778
MSV3d	rs72552778
GWAS Ctlg	rs72552778

Max Magnitude

0

OMIM	171060
Desc
Variant	0005
Related	also

ClinVar
Risk	rs72552778(T;T)
Alt	rs72552778(T;T)
Reference	Rs72552778(C;C)
Significance	Pathogenic
Disease	Cholecystitis Cholestasis Progressive familial intrahepatic cholestasis 3 ABCB4-Related Intrahepatic Cholestasis
Variation	info
Gene	ABCB4
CLNDBN	Cholecystitis Cholestasis, intrahepatic, of pregnancy 3 Progressive familial intrahepatic cholestasis 3 ABCB4-Related Intrahepatic Cholestasis
Reversed	1
HGVS	NC_000007.13:g.87076396G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014688.24, RCV000033065.25, RCV000190560.1, RCV000262183.1,