rs104894584

Orientation

plus

Stabilized

plus

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

Make rs104894584(A;A)

Make rs104894584(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175553

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894584
dbSNP (classic)	rs104894584
ClinGen	rs104894584
ebi	rs104894584
HLI	rs104894584
Exac	rs104894584
Gnomad	rs104894584
Varsome	rs104894584
LitVar	rs104894584
Map	rs104894584
PheGenI	rs104894584
Biobank	rs104894584
1000 genomes	rs104894584
hgdp	rs104894584
ensembl	rs104894584
geneview	rs104894584
scholar	rs104894584
google	rs104894584
pharmgkb	rs104894584
gwascentral	rs104894584
openSNP	rs104894584
23andMe	rs104894584
SNPshot	rs104894584
SNPdbe	rs104894584
MSV3d	rs104894584
GWAS Ctlg	rs104894584

Max Magnitude

0

OMIM	600681
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894584(A;A)
Alt	rs104894584(A;A)
Reference	Rs104894584(G;G)
Significance	Pathogenic
Disease	Short QT syndrome 3 Short QT syndrome
Variation	info
Gene	KCNJ2
CLNDBN	Short QT syndrome 3 short QT syndrome
Reversed	0
HGVS	NC_000017.10:g.68171694G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009482.2, RCV000058318.3,

[PMID 15761194] A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.