rs1060499649

Orientation

plus

Stabilized

plus

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

Make rs1060499649(A;A)

Make rs1060499649(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

69226175

Gene

TJP2

is a	snp
is	mentioned by
dbSNP	rs1060499649
dbSNP (classic)	rs1060499649
ClinGen	rs1060499649
ebi	rs1060499649
HLI	rs1060499649
Exac	rs1060499649
Gnomad	rs1060499649
Varsome	rs1060499649
LitVar	rs1060499649
Map	rs1060499649
PheGenI	rs1060499649
Biobank	rs1060499649
1000 genomes	rs1060499649
hgdp	rs1060499649
ensembl	rs1060499649
geneview	rs1060499649
scholar	rs1060499649
google	rs1060499649
pharmgkb	rs1060499649
gwascentral	rs1060499649
openSNP	rs1060499649
23andMe	rs1060499649
SNPshot	rs1060499649
SNPdbe	rs1060499649
MSV3d	rs1060499649
GWAS Ctlg	rs1060499649

Max Magnitude

0

ClinVar
Risk	rs1060499649(A;A)
Alt	rs1060499649(A;A)
Reference	Rs1060499649(G;G)
Significance	Probable-Pathogenic
Disease	Progressive familial intrahepatic cholestasis 4
Variation	info
Gene	TJP2
CLNDBN	Progressive familial intrahepatic cholestasis 4
Reversed	0
HGVS	NC_000009.11:g.71841091G>A
CLNSRC
CLNACC	RCV000449597.1,