rs864321695

Orientation

plus

Stabilized

plus

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

Make rs864321695(G;T)

Make rs864321695(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

69248011

Gene

TJP2

is a	snp
is	mentioned by
dbSNP	rs864321695
dbSNP (classic)	rs864321695
ClinGen	rs864321695
ebi	rs864321695
HLI	rs864321695
Exac	rs864321695
Gnomad	rs864321695
Varsome	rs864321695
LitVar	rs864321695
Map	rs864321695
PheGenI	rs864321695
Biobank	rs864321695
1000 genomes	rs864321695
hgdp	rs864321695
ensembl	rs864321695
geneview	rs864321695
scholar	rs864321695
google	rs864321695
pharmgkb	rs864321695
gwascentral	rs864321695
openSNP	rs864321695
23andMe	rs864321695
SNPshot	rs864321695
SNPdbe	rs864321695
MSV3d	rs864321695
GWAS Ctlg	rs864321695

Max Magnitude

0

ClinVar
Risk	rs864321695(T;T)
Alt	rs864321695(T;T)
Reference	Rs864321695(G;G)
Significance	Pathogenic
Disease	Progressive familial intrahepatic cholestasis 4
Variation	info
Gene	TJP2
CLNDBN	Progressive familial intrahepatic cholestasis 4
Reversed	0
HGVS	NC_000009.11:g.71862927G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203578.2,