rs587777518

Orientation

plus

Stabilized

plus

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

Make rs587777518(-;-)

Make rs587777518(-;GCCT)

Reference

GRCh38 38.1/142

Chromosome

9

Position

69221310

Gene

TJP2

is a	snp
is	mentioned by
dbSNP	rs587777518
dbSNP (classic)	rs587777518
ClinGen	rs587777518
ebi	rs587777518
HLI	rs587777518
Exac	rs587777518
Gnomad	rs587777518
Varsome	rs587777518
LitVar	rs587777518
Map	rs587777518
PheGenI	rs587777518
Biobank	rs587777518
1000 genomes	rs587777518
hgdp	rs587777518
ensembl	rs587777518
geneview	rs587777518
scholar	rs587777518
google	rs587777518
pharmgkb	rs587777518
gwascentral	rs587777518
openSNP	rs587777518
23andMe	rs587777518
SNPshot	rs587777518
SNPdbe	rs587777518
MSV3d	rs587777518
GWAS Ctlg	rs587777518

Max Magnitude

0

ClinVar
Risk	rs587777518(-;-)
Alt	rs587777518(-;-)
Reference	Rs587777518(GCCT;GCCT)
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.71836226_71836229delGCCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128570.3,