rs749697698
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs749697698(-;-) |
Make rs749697698(-;AGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 38551520 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs749697698 |
dbSNP (classic) | rs749697698 |
ClinGen | rs749697698 |
ebi | rs749697698 |
HLI | rs749697698 |
Exac | rs749697698 |
Gnomad | rs749697698 |
Varsome | rs749697698 |
LitVar | rs749697698 |
Map | rs749697698 |
PheGenI | rs749697698 |
Biobank | rs749697698 |
1000 genomes | rs749697698 |
hgdp | rs749697698 |
ensembl | rs749697698 |
geneview | rs749697698 |
scholar | rs749697698 |
rs749697698 | |
pharmgkb | rs749697698 |
gwascentral | rs749697698 |
openSNP | rs749697698 |
23andMe | rs749697698 |
SNPshot | rs749697698 |
SNPdbe | rs749697698 |
MSV3d | rs749697698 |
GWAS Ctlg | rs749697698 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749697698(-;-) |
Alt | rs749697698(-;-) |
Reference | Rs749697698(AGA;AGA) |
Significance | Pathogenic |
Disease | not provided Long QT syndrome Long QT syndrome 3 Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | not provided Long QT syndrome Long QT syndrome 3 Brugada syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.38593011_38593013delAGA |
CLNSRC | |
CLNACC | RCV000183166.3, RCV000208172.1, RCV000240624.1, RCV000474854.1, |