rs121912509
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs121912509(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 150947477 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs121912509 |
dbSNP (classic) | rs121912509 |
ClinGen | rs121912509 |
ebi | rs121912509 |
HLI | rs121912509 |
Exac | rs121912509 |
Gnomad | rs121912509 |
Varsome | rs121912509 |
LitVar | rs121912509 |
Map | rs121912509 |
PheGenI | rs121912509 |
Biobank | rs121912509 |
1000 genomes | rs121912509 |
hgdp | rs121912509 |
ensembl | rs121912509 |
geneview | rs121912509 |
scholar | rs121912509 |
rs121912509 | |
pharmgkb | rs121912509 |
gwascentral | rs121912509 |
openSNP | rs121912509 |
23andMe | rs121912509 |
SNPshot | rs121912509 |
SNPdbe | rs121912509 |
MSV3d | rs121912509 |
GWAS Ctlg | rs121912509 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs121912509(A;A) |
Alt | rs121912509(A;A) |
Reference | Rs121912509(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 2 not provided |
Variation | info |
Gene | KCNH2 |
CLNDBN | Long QT syndrome 2 not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.150644565C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015512.26, RCV000181905.1, |