rs104894575

Orientation

plus

Stabilized

plus

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

Make rs104894575(A;T)

Make rs104894575(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175251

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894575
dbSNP (classic)	rs104894575
ClinGen	rs104894575
ebi	rs104894575
HLI	rs104894575
Exac	rs104894575
Gnomad	rs104894575
Varsome	rs104894575
LitVar	rs104894575
Map	rs104894575
PheGenI	rs104894575
Biobank	rs104894575
1000 genomes	rs104894575
hgdp	rs104894575
ensembl	rs104894575
geneview	rs104894575
scholar	rs104894575
google	rs104894575
pharmgkb	rs104894575
gwascentral	rs104894575
openSNP	rs104894575
23andMe	rs104894575
SNPshot	rs104894575
SNPdbe	rs104894575
MSV3d	rs104894575
GWAS Ctlg	rs104894575

Max Magnitude

0

OMIM	600681
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894575(T;T)
Alt	rs104894575(T;T)
Reference	Rs104894575(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.68171392A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009473.4, RCV000058298.3,

[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).