rs199473253
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Romano-Ward Long QT Syndrome |
(C;C) | 0 | common in clinvar |
Make rs199473253(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38556505 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs199473253 |
dbSNP (classic) | rs199473253 |
ClinGen | rs199473253 |
ebi | rs199473253 |
HLI | rs199473253 |
Exac | rs199473253 |
Gnomad | rs199473253 |
Varsome | rs199473253 |
LitVar | rs199473253 |
Map | rs199473253 |
PheGenI | rs199473253 |
Biobank | rs199473253 |
1000 genomes | rs199473253 |
hgdp | rs199473253 |
ensembl | rs199473253 |
geneview | rs199473253 |
scholar | rs199473253 |
rs199473253 | |
pharmgkb | rs199473253 |
gwascentral | rs199473253 |
openSNP | rs199473253 |
23andMe | rs199473253 |
SNPshot | rs199473253 |
SNPdbe | rs199473253 |
MSV3d | rs199473253 |
GWAS Ctlg | rs199473253 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs199473253(A;A) |
Alt | rs199473253(A;A) |
Reference | Rs199473253(C;C) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome not provided |
Variation | info |
Gene | SCN5A |
CLNDBN | Congenital long QT syndrome not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.38597996G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058667.3, RCV000183071.1, |