rs199473387

Orientation

plus

Stabilized

plus

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

Make rs199473387(A;C)

Make rs199473387(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175952

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs199473387
dbSNP (classic)	rs199473387
ClinGen	rs199473387
ebi	rs199473387
HLI	rs199473387
Exac	rs199473387
Gnomad	rs199473387
Varsome	rs199473387
LitVar	rs199473387
Map	rs199473387
PheGenI	rs199473387
Biobank	rs199473387
1000 genomes	rs199473387
hgdp	rs199473387
ensembl	rs199473387
geneview	rs199473387
scholar	rs199473387
google	rs199473387
pharmgkb	rs199473387
gwascentral	rs199473387
openSNP	rs199473387
23andMe	rs199473387
SNPshot	rs199473387
SNPdbe	rs199473387
MSV3d	rs199473387
GWAS Ctlg	rs199473387

Max Magnitude

0

ClinVar
Risk	rs199473387(C;C) rs199473387(G;G)
Alt	rs199473387(C;C) rs199473387(G;G)
Reference	Rs199473387(A;A)
Significance	Pathogenic
Disease	Andersen Tawil syndrome Congenital long QT syndrome Arrhythmia
Variation	info
Gene	KCNJ2
CLNDBN	Andersen Tawil syndrome Congenital long QT syndrome Arrhythmia
Reversed	0
HGVS	NC_000017.10:g.68172093A>C; NC_000017.10:g.68172093A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023028.4, RCV000058335.3, RCV000058336.3,

[PMID 17324964] Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

[PMID 17341397] KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.