rs121912515

minus

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

Make rs121912515(C;G)

Make rs121912515(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150974720

Gene	KCNH2, LOC107986861

is a	snp
is	mentioned by
dbSNP	rs121912515
dbSNP (classic)	rs121912515
ClinGen	rs121912515
ebi	rs121912515
HLI	rs121912515
Exac	rs121912515
Gnomad	rs121912515
Varsome	rs121912515
LitVar	rs121912515
Map	rs121912515
PheGenI	rs121912515
Biobank	rs121912515
1000 genomes	rs121912515
hgdp	rs121912515
ensembl	rs121912515
geneview	rs121912515
scholar	rs121912515
google	rs121912515
pharmgkb	rs121912515
gwascentral	rs121912515
openSNP	rs121912515
23andMe	rs121912515
SNPshot	rs121912515
SNPdbe	rs121912515
MSV3d	rs121912515
GWAS Ctlg	rs121912515

Max Magnitude

0

OMIM	152427
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121912515(A;A) rs121912515(G;G) rs121912515(T;T)
Alt	rs121912515(A;A) rs121912515(G;G) rs121912515(T;T)
Reference	Rs121912515(C;C)
Significance	Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome 2/3 not provided
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome Long QT syndrome 2/3, digenic not provided
Reversed	1
HGVS	NC_000007.13:g.150671808G>A; NC_000007.13:g.150671808G>C
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000058187.3, RCV000015525.26, RCV000058186.3, RCV000181948.1,

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

[PMID 19716085 ] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.