rs11568372

Orientation

minus

Stabilized

minus

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

Make rs11568372(A;G)

Make rs11568372(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

168990819

Gene

ABCB11

is a	snp
is	mentioned by
dbSNP	rs11568372
dbSNP (classic)	rs11568372
ClinGen	rs11568372
ebi	rs11568372
HLI	rs11568372
Exac	rs11568372
Gnomad	rs11568372
Varsome	rs11568372
LitVar	rs11568372
Map	rs11568372
PheGenI	rs11568372
Biobank	rs11568372
1000 genomes	rs11568372
hgdp	rs11568372
ensembl	rs11568372
geneview	rs11568372
scholar	rs11568372
google	rs11568372
pharmgkb	rs11568372
gwascentral	rs11568372
openSNP	rs11568372
23andMe	rs11568372
SNPshot	rs11568372
SNPdbe	rs11568372
MSV3d	rs11568372
GWAS Ctlg	rs11568372

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	603201
Desc	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
Variant	0002
Related	also

ClinVar
Risk	rs11568372(G;G)
Alt	rs11568372(G;G)
Reference	Rs11568372(A;A)
Significance	Pathogenic
Disease	Progressive familial intrahepatic cholestasis 2 Benign recurrent intrahepatic cholestasis 2 Familial Intrahepatic Cholestasis
Variation	info
Gene	ABCB11
CLNDBN	Progressive familial intrahepatic cholestasis 2 Benign recurrent intrahepatic cholestasis 2 Familial Intrahepatic Cholestasis
Reversed	1
HGVS	NC_000002.11:g.169847329T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006968.3, RCV000258070.2, RCV000403023.1,