rs104894583

Orientation

plus

Stabilized

plus

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

Make rs104894583(A;C)

Make rs104894583(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175685

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894583
dbSNP (classic)	rs104894583
ClinGen	rs104894583
ebi	rs104894583
HLI	rs104894583
Exac	rs104894583
Gnomad	rs104894583
Varsome	rs104894583
LitVar	rs104894583
Map	rs104894583
PheGenI	rs104894583
Biobank	rs104894583
1000 genomes	rs104894583
hgdp	rs104894583
ensembl	rs104894583
geneview	rs104894583
scholar	rs104894583
google	rs104894583
pharmgkb	rs104894583
gwascentral	rs104894583
openSNP	rs104894583
23andMe	rs104894583
SNPshot	rs104894583
SNPdbe	rs104894583
MSV3d	rs104894583
GWAS Ctlg	rs104894583

Max Magnitude

0

OMIM	600681
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894583(C;C)
Alt	rs104894583(C;C)
Reference	Rs104894583(A;A)
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.68171826A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009481.4, RCV000058324.3,

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