rs104894585

Orientation

plus

Stabilized

plus

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

Make rs104894585(C;G)

Make rs104894585(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175263

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894585
dbSNP (classic)	rs104894585
ClinGen	rs104894585
ebi	rs104894585
HLI	rs104894585
Exac	rs104894585
Gnomad	rs104894585
Varsome	rs104894585
LitVar	rs104894585
Map	rs104894585
PheGenI	rs104894585
Biobank	rs104894585
1000 genomes	rs104894585
hgdp	rs104894585
ensembl	rs104894585
geneview	rs104894585
scholar	rs104894585
google	rs104894585
pharmgkb	rs104894585
gwascentral	rs104894585
openSNP	rs104894585
23andMe	rs104894585
SNPshot	rs104894585
SNPdbe	rs104894585
MSV3d	rs104894585
GWAS Ctlg	rs104894585

Max Magnitude

0

OMIM	600681
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894585(G;G) rs104894585(T;T)
Alt	rs104894585(G;G) rs104894585(T;T)
Reference	Rs104894585(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.68171404C>G; NC_000017.10:g.68171404C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009483.2, RCV000058301.3, RCV000058302.3, RCV000170993.2,

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

[PMID 16571646] Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

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

[PMID 17582433] T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.