rs397514251
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAAGCCCC;AGAAGCCCC) | 0 | common in clinvar |
(CAGAAGCCC;CAGAAGCCC) | 0 | common in clinvar |
(GAAGCCCCA;GAAGCCCCA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397514251(-;-) |
Make rs397514251(-;AGAAGCCCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38555679 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs397514251 |
dbSNP (classic) | rs397514251 |
ClinGen | rs397514251 |
ebi | rs397514251 |
HLI | rs397514251 |
Exac | rs397514251 |
Gnomad | rs397514251 |
Varsome | rs397514251 |
LitVar | rs397514251 |
Map | rs397514251 |
PheGenI | rs397514251 |
Biobank | rs397514251 |
1000 genomes | rs397514251 |
hgdp | rs397514251 |
ensembl | rs397514251 |
geneview | rs397514251 |
scholar | rs397514251 |
rs397514251 | |
pharmgkb | rs397514251 |
gwascentral | rs397514251 |
openSNP | rs397514251 |
23andMe | rs397514251 |
SNPshot | rs397514251 |
SNPdbe | rs397514251 |
MSV3d | rs397514251 |
GWAS Ctlg | rs397514251 |
Merged from | Rs794728923 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs397514251(CAGAAGCCC;CAGAAGCCC) rs397514251(-;-) |
Alt | Rs397514251(CAGAAGCCC;CAGAAGCCC) rs397514251(-;-) |
Reference | Rs397514251(AGAAGCCCC;AGAAGCCCC) |
Significance | Pathogenic |
Disease | Long QT syndrome 3 not provided Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | Long QT syndrome 3 not provided Brugada syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38597162_38597170delGGGCTTCTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009962.5, RCV000183165.2, RCV000461009.1, |