rs773724817
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs773724817(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150948861 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs773724817 |
dbSNP (classic) | rs773724817 |
ClinGen | rs773724817 |
ebi | rs773724817 |
HLI | rs773724817 |
Exac | rs773724817 |
Gnomad | rs773724817 |
Varsome | rs773724817 |
LitVar | rs773724817 |
Map | rs773724817 |
PheGenI | rs773724817 |
Biobank | rs773724817 |
1000 genomes | rs773724817 |
hgdp | rs773724817 |
ensembl | rs773724817 |
geneview | rs773724817 |
scholar | rs773724817 |
rs773724817 | |
pharmgkb | rs773724817 |
gwascentral | rs773724817 |
openSNP | rs773724817 |
23andMe | rs773724817 |
SNPshot | rs773724817 |
SNPdbe | rs773724817 |
MSV3d | rs773724817 |
GWAS Ctlg | rs773724817 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs773724817(A;A) |
Alt | rs773724817(A;A) |
Reference | Rs773724817(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome Long QT syndrome 2 not provided |
Variation | info |
Gene | KCNH2 |
CLNDBN | Long QT syndrome Long QT syndrome 2 not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.150645949G>A |
CLNSRC | |
CLNACC | RCV000203902.2, RCV000406555.1, RCV000414460.1, |