rs797046139

Orientation

minus

Stabilized

minus

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

Make rs797046139(C;T)

Make rs797046139(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

41758753

Gene

JUP

is a	snp
is	mentioned by
dbSNP	rs797046139
dbSNP (classic)	rs797046139
ClinGen	rs797046139
ebi	rs797046139
HLI	rs797046139
Exac	rs797046139
Gnomad	rs797046139
Varsome	rs797046139
LitVar	rs797046139
Map	rs797046139
PheGenI	rs797046139
Biobank	rs797046139
1000 genomes	rs797046139
hgdp	rs797046139
ensembl	rs797046139
geneview	rs797046139
scholar	rs797046139
google	rs797046139
pharmgkb	rs797046139
gwascentral	rs797046139
openSNP	rs797046139
23andMe	rs797046139
SNPshot	rs797046139
SNPdbe	rs797046139
MSV3d	rs797046139
GWAS Ctlg	rs797046139

Max Magnitude

0

ClinVar
Risk	rs797046139(T;T)
Alt	rs797046139(T;T)
Reference	Rs797046139(C;C)
Significance	Pathogenic
Disease	Naxos disease
Variation	info
Gene	JUP
CLNDBN	Naxos disease
Reversed	1
HGVS	NC_000017.10:g.39915005G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000193584.2,