rs41311117
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs41311117(A;G) |
Make rs41311117(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 38550362 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs41311117 |
dbSNP (classic) | rs41311117 |
ClinGen | rs41311117 |
ebi | rs41311117 |
HLI | rs41311117 |
Exac | rs41311117 |
Gnomad | rs41311117 |
Varsome | rs41311117 |
LitVar | rs41311117 |
Map | rs41311117 |
PheGenI | rs41311117 |
Biobank | rs41311117 |
1000 genomes | rs41311117 |
hgdp | rs41311117 |
ensembl | rs41311117 |
geneview | rs41311117 |
scholar | rs41311117 |
rs41311117 | |
pharmgkb | rs41311117 |
gwascentral | rs41311117 |
openSNP | rs41311117 |
23andMe | rs41311117 |
SNPshot | rs41311117 |
SNPdbe | rs41311117 |
MSV3d | rs41311117 |
GWAS Ctlg | rs41311117 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41311117(C;C) rs41311117(G;G) rs41311117(T;T) |
Alt | rs41311117(C;C) rs41311117(G;G) rs41311117(T;T) |
Reference | Rs41311117(A;A) |
Significance | Probable-non-pathogenic |
Disease | Congenital long QT syndrome not specified not provided Brugada syndrome Long QT syndrome Brugada syndrome 1 Long QT syndrome 3 Cardiovascular phenotype |
Variation | info |
Gene | SCN5A |
CLNDBN | Congenital long QT syndrome not specified not provided Brugada syndrome Long QT syndrome Brugada syndrome 1 Long QT syndrome 3 Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000003.11:g.38591853A>C; NC_000003.11:g.38591853A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058822.3, RCV000041636.3, RCV000058821.4, RCV000171818.2, RCV000202785.1, RCV000204558.3, RCV000251940.1, |