rs137854605
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs137854605(AA;AA) |
Make rs137854605(AA;TC) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38581337 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs137854605 |
dbSNP (classic) | rs137854605 |
ClinGen | rs137854605 |
ebi | rs137854605 |
HLI | rs137854605 |
Exac | rs137854605 |
Gnomad | rs137854605 |
Varsome | rs137854605 |
LitVar | rs137854605 |
Map | rs137854605 |
PheGenI | rs137854605 |
Biobank | rs137854605 |
1000 genomes | rs137854605 |
hgdp | rs137854605 |
ensembl | rs137854605 |
geneview | rs137854605 |
scholar | rs137854605 |
rs137854605 | |
pharmgkb | rs137854605 |
gwascentral | rs137854605 |
openSNP | rs137854605 |
23andMe | rs137854605 |
SNPshot | rs137854605 |
SNPdbe | rs137854605 |
MSV3d | rs137854605 |
GWAS Ctlg | rs137854605 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854605(AA;AA) |
Alt | rs137854605(AA;AA) |
Reference | Rs137854605(TC;TC) |
Significance | Pathogenic |
Disease | Long QT syndrome 3 |
Variation | info |
Gene | SCN5A |
CLNDBN | Long QT syndrome 3 |
Reversed | 1 |
HGVS | NC_000003.11:g.38622828_38622829delGAinsTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009982.2, |