rs104894580

Orientation

plus

Stabilized

plus

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

Make rs104894580(C;T)

Make rs104894580(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175238

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894580
dbSNP (classic)	rs104894580
ClinGen	rs104894580
ebi	rs104894580
HLI	rs104894580
Exac	rs104894580
Gnomad	rs104894580
Varsome	rs104894580
LitVar	rs104894580
Map	rs104894580
PheGenI	rs104894580
Biobank	rs104894580
1000 genomes	rs104894580
hgdp	rs104894580
ensembl	rs104894580
geneview	rs104894580
scholar	rs104894580
google	rs104894580
pharmgkb	rs104894580
gwascentral	rs104894580
openSNP	rs104894580
23andMe	rs104894580
SNPshot	rs104894580
SNPdbe	rs104894580
MSV3d	rs104894580
GWAS Ctlg	rs104894580

Max Magnitude

0

OMIM	600681
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894580(A;A) rs104894580(T;T)
Alt	rs104894580(A;A) rs104894580(T;T)
Reference	Rs104894580(C;C)
Significance	Pathogenic
Disease	Andersen Tawil syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNJ2
CLNDBN	Andersen Tawil syndrome Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000017.10:g.68171379C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009478.2, RCV000058294.3, RCV000170971.5,

[PMID 12148092] KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

[PMID 12796536] PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

[PMID 15851159] Polymorphic ventricular tachycardia and KCNJ2 mutations.

[PMID 16217063] Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

[PMID 17221872] Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.