rs104894578

Orientation

plus

Stabilized

plus

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

Make rs104894578(C;T)

Make rs104894578(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175691

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894578
dbSNP (classic)	rs104894578
ClinGen	rs104894578
ebi	rs104894578
HLI	rs104894578
Exac	rs104894578
Gnomad	rs104894578
Varsome	rs104894578
LitVar	rs104894578
Map	rs104894578
PheGenI	rs104894578
Biobank	rs104894578
1000 genomes	rs104894578
hgdp	rs104894578
ensembl	rs104894578
geneview	rs104894578
scholar	rs104894578
google	rs104894578
pharmgkb	rs104894578
gwascentral	rs104894578
openSNP	rs104894578
23andMe	rs104894578
SNPshot	rs104894578
SNPdbe	rs104894578
MSV3d	rs104894578
GWAS Ctlg	rs104894578

Max Magnitude

0

OMIM	600681
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894578(T;T)
Alt	rs104894578(T;T)
Reference	Rs104894578(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.68171832C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009474.3, RCV000058326.3, RCV000170982.4,

[PMID 17074] Regulation of acid proteases during growth, quiescence and starvation in normal and transformed cells.

[PMID 11371347] Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

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

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

[PMID 15852530] KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome.

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