rs199473384

Orientation

plus

Stabilized

plus

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

Make rs199473384(A;A)

Make rs199473384(A;G)

Reference

GRCh38 38.1/142

Chromosome

17

Position

70175692

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs199473384
dbSNP (classic)	rs199473384
ClinGen	rs199473384
ebi	rs199473384
HLI	rs199473384
Exac	rs199473384
Gnomad	rs199473384
Varsome	rs199473384
LitVar	rs199473384
Map	rs199473384
PheGenI	rs199473384
Biobank	rs199473384
1000 genomes	rs199473384
hgdp	rs199473384
ensembl	rs199473384
geneview	rs199473384
scholar	rs199473384
google	rs199473384
pharmgkb	rs199473384
gwascentral	rs199473384
openSNP	rs199473384
23andMe	rs199473384
SNPshot	rs199473384
SNPdbe	rs199473384
MSV3d	rs199473384
GWAS Ctlg	rs199473384

Max Magnitude

0

ClinVar
Risk	rs199473384(A;A) rs199473384(T;T)
Alt	rs199473384(A;A) rs199473384(T;T)
Reference	Rs199473384(G;G)
Significance	Pathogenic
Disease	Congenital long QT syndrome Andersen Tawil syndrome not provided not specified Short QT syndrome 3
Variation	info
Gene	KCNJ2
CLNDBN	Congenital long QT syndrome Andersen Tawil syndrome not provided not specified Short QT syndrome 3
Reversed	0
HGVS	NC_000017.10:g.68171833G>A; NC_000017.10:g.68171833G>C; NC_000017.10:g.68171833G>T
CLNSRC	ClinVar
CLNACC	RCV000058327.3, RCV000157273.3, RCV000255682.2, RCV000493695.1, RCV000170983.3, RCV000470921.1,