rs104894581

Orientation

plus

Stabilized

plus

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

Make rs104894581(C;T)

Make rs104894581(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175596

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs104894581
dbSNP (classic)	rs104894581
ClinGen	rs104894581
ebi	rs104894581
HLI	rs104894581
Exac	rs104894581
Gnomad	rs104894581
Varsome	rs104894581
LitVar	rs104894581
Map	rs104894581
PheGenI	rs104894581
Biobank	rs104894581
1000 genomes	rs104894581
hgdp	rs104894581
ensembl	rs104894581
geneview	rs104894581
scholar	rs104894581
google	rs104894581
pharmgkb	rs104894581
gwascentral	rs104894581
openSNP	rs104894581
23andMe	rs104894581
SNPshot	rs104894581
SNPdbe	rs104894581
MSV3d	rs104894581
GWAS Ctlg	rs104894581

Max Magnitude

0

OMIM	600681
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894581(T;T)
Alt	rs104894581(T;T)
Reference	Rs104894581(C;C)
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.68171737C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009479.2, RCV000058319.3,

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