rs72549397

Orientation

plus

Stabilized

plus

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

Make rs72549397(A;A)

Make rs72549397(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

168932421

Gene

ABCB11

is a	snp
is	mentioned by
dbSNP	rs72549397
dbSNP (classic)	rs72549397
ClinGen	rs72549397
ebi	rs72549397
HLI	rs72549397
Exac	rs72549397
Gnomad	rs72549397
Varsome	rs72549397
LitVar	rs72549397
Map	rs72549397
PheGenI	rs72549397
Biobank	rs72549397
1000 genomes	rs72549397
hgdp	rs72549397
ensembl	rs72549397
geneview	rs72549397
scholar	rs72549397
google	rs72549397
pharmgkb	rs72549397
gwascentral	rs72549397
openSNP	rs72549397
23andMe	rs72549397
SNPshot	rs72549397
SNPdbe	rs72549397
MSV3d	rs72549397
GWAS Ctlg	rs72549397

Max Magnitude

0

OMIM	603201
Desc
Variant	0007
Related	also

ClinVar
Risk	rs72549397(A;A)
Alt	rs72549397(A;A)
Reference	Rs72549397(G;G)
Significance	Pathogenic
Disease	Progressive familial intrahepatic cholestasis 2
Variation	info
Gene	ABCB11
CLNDBN	Progressive familial intrahepatic cholestasis 2
Reversed	0
HGVS	NC_000002.11:g.169788931G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006975.3,