rs1057518679

Orientation

plus

Stabilized

plus

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

Make rs1057518679(-;-)

Make rs1057518679(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

69227797

Gene

TJP2

is a	snp
is	mentioned by
dbSNP	rs1057518679
dbSNP (classic)	rs1057518679
ClinGen	rs1057518679
ebi	rs1057518679
HLI	rs1057518679
Exac	rs1057518679
Gnomad	rs1057518679
Varsome	rs1057518679
LitVar	rs1057518679
Map	rs1057518679
PheGenI	rs1057518679
Biobank	rs1057518679
1000 genomes	rs1057518679
hgdp	rs1057518679
ensembl	rs1057518679
geneview	rs1057518679
scholar	rs1057518679
google	rs1057518679
pharmgkb	rs1057518679
gwascentral	rs1057518679
openSNP	rs1057518679
23andMe	rs1057518679
SNPshot	rs1057518679
SNPdbe	rs1057518679
MSV3d	rs1057518679
GWAS Ctlg	rs1057518679

Max Magnitude

0

ClinVar
Risk	rs1057518679(-;-)
Alt	rs1057518679(-;-)
Reference	Rs1057518679(T;T)
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.71842713delT
CLNSRC
CLNACC	RCV000415040.1,