rs104894582

Orientation

plus

Stabilized

plus

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

Make rs104894582(A;A)

Make rs104894582(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175943

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894582
dbSNP (classic)	rs104894582
ClinGen	rs104894582
ebi	rs104894582
HLI	rs104894582
Exac	rs104894582
Gnomad	rs104894582
Varsome	rs104894582
LitVar	rs104894582
Map	rs104894582
PheGenI	rs104894582
Biobank	rs104894582
1000 genomes	rs104894582
hgdp	rs104894582
ensembl	rs104894582
geneview	rs104894582
scholar	rs104894582
google	rs104894582
pharmgkb	rs104894582
gwascentral	rs104894582
openSNP	rs104894582
23andMe	rs104894582
SNPshot	rs104894582
SNPdbe	rs104894582
MSV3d	rs104894582
GWAS Ctlg	rs104894582

Max Magnitude

0

OMIM	600681
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894582(A;A)
Alt	rs104894582(A;A)
Reference	Rs104894582(G;G)
Significance	Pathogenic
Disease	Andersen Tawil syndrome Congenital long QT syndrome
Variation	info
Gene	KCNJ2
CLNDBN	Andersen Tawil syndrome Congenital long QT syndrome
Reversed	0
HGVS	NC_000017.10:g.68172084G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009480.2, RCV000058333.3,

[PMID 12163457] Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).