rs1126821

Orientation

minus

Stabilized

minus

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

Make rs1126821(A;T)

Make rs1126821(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41755893

Gene

JUP

is a	snp
is	mentioned by
dbSNP	rs1126821
dbSNP (classic)	rs1126821
ClinGen	rs1126821
ebi	rs1126821
HLI	rs1126821
Exac	rs1126821
Gnomad	rs1126821
Varsome	rs1126821
LitVar	rs1126821
Map	rs1126821
PheGenI	rs1126821
Biobank	rs1126821
1000 genomes	rs1126821
hgdp	rs1126821
ensembl	rs1126821
geneview	rs1126821
scholar	rs1126821
google	rs1126821
pharmgkb	rs1126821
gwascentral	rs1126821
openSNP	rs1126821
23andMe	rs1126821
SNPshot	rs1126821
SNPdbe	rs1126821
MSV3d	rs1126821
GWAS Ctlg	rs1126821

Merged from

Rs12937241

GMAF

0.4279

Max Magnitude

0

?	(A;A) (A;T) (T;T)	28

OMIM	611528
Desc
Variant
Related	also

ClinVar
Risk	rs1126821(T;T)
Alt	rs1126821(T;T)
Reference	Rs1126821(A;A)
Significance	Other
Disease	Naxos disease not specified Cardiovascular phenotype Cardiomyopathy
Variation	info
Gene	JUP
CLNDBN	Naxos disease not specified Cardiovascular phenotype Cardiomyopathy, ARVC
Reversed	1
HGVS	NC_000017.10:g.39912145T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020467.2, RCV000039075.5, RCV000251926.1, RCV000351947.1,