rs397514448
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514448(-;-) |
Make rs397514448(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 38551241 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs397514448 |
dbSNP (classic) | rs397514448 |
ClinGen | rs397514448 |
ebi | rs397514448 |
HLI | rs397514448 |
Exac | rs397514448 |
Gnomad | rs397514448 |
Varsome | rs397514448 |
LitVar | rs397514448 |
Map | rs397514448 |
PheGenI | rs397514448 |
Biobank | rs397514448 |
1000 genomes | rs397514448 |
hgdp | rs397514448 |
ensembl | rs397514448 |
geneview | rs397514448 |
scholar | rs397514448 |
rs397514448 | |
pharmgkb | rs397514448 |
gwascentral | rs397514448 |
openSNP | rs397514448 |
23andMe | rs397514448 |
SNPshot | rs397514448 |
SNPdbe | rs397514448 |
MSV3d | rs397514448 |
GWAS Ctlg | rs397514448 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514448(-;-) |
Alt | rs397514448(-;-) |
Reference | Rs397514448(G;G) |
Significance | Pathogenic |
Disease | Heart block |
Variation | info |
Gene | SCN5A |
CLNDBN | Heart block, nonprogressive |
Reversed | 1 |
HGVS | NC_000003.11:g.38592732delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009976.2, |