rs199473136
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473136(C;C) |
Make rs199473136(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38599026 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs199473136 |
dbSNP (classic) | rs199473136 |
ClinGen | rs199473136 |
ebi | rs199473136 |
HLI | rs199473136 |
Exac | rs199473136 |
Gnomad | rs199473136 |
Varsome | rs199473136 |
LitVar | rs199473136 |
Map | rs199473136 |
PheGenI | rs199473136 |
Biobank | rs199473136 |
1000 genomes | rs199473136 |
hgdp | rs199473136 |
ensembl | rs199473136 |
geneview | rs199473136 |
scholar | rs199473136 |
rs199473136 | |
pharmgkb | rs199473136 |
gwascentral | rs199473136 |
openSNP | rs199473136 |
23andMe | rs199473136 |
SNPshot | rs199473136 |
SNPdbe | rs199473136 |
MSV3d | rs199473136 |
GWAS Ctlg | rs199473136 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473136(A;A) rs199473136(C;C) |
Alt | rs199473136(A;A) rs199473136(C;C) |
Reference | Rs199473136(G;G) |
Significance | Probable-Pathogenic |
Disease | Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | Congenital long QT syndrome Long QT syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38640517C>G; NC_000003.11:g.38640517C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058463.3, RCV000058462.3, RCV000171572.1, |