rs199473633
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199473633(A;G) |
Make rs199473633(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38551052 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs199473633 |
dbSNP (classic) | rs199473633 |
ClinGen | rs199473633 |
ebi | rs199473633 |
HLI | rs199473633 |
Exac | rs199473633 |
Gnomad | rs199473633 |
Varsome | rs199473633 |
LitVar | rs199473633 |
Map | rs199473633 |
PheGenI | rs199473633 |
Biobank | rs199473633 |
1000 genomes | rs199473633 |
hgdp | rs199473633 |
ensembl | rs199473633 |
geneview | rs199473633 |
scholar | rs199473633 |
rs199473633 | |
pharmgkb | rs199473633 |
gwascentral | rs199473633 |
openSNP | rs199473633 |
23andMe | rs199473633 |
SNPshot | rs199473633 |
SNPdbe | rs199473633 |
MSV3d | rs199473633 |
GWAS Ctlg | rs199473633 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473633(G;G) rs199473633(T;T) |
Alt | rs199473633(G;G) rs199473633(T;T) |
Reference | Rs199473633(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Congenital long QT syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | not provided Congenital long QT syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38592543T>A; NC_000003.11:g.38592543T>C |
CLNSRC | ClinVar |
CLNACC | RCV000489012.1, RCV000058768.3, |