rs794728913
From SNPedia
Merged into | rs397514450 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs794728913(-;GT) |
Make rs794728913(GT;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 38585926 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs794728913 |
dbSNP (classic) | rs794728913 |
ClinGen | rs794728913 |
ebi | rs794728913 |
HLI | rs794728913 |
Exac | rs794728913 |
Gnomad | rs794728913 |
Varsome | rs794728913 |
LitVar | rs794728913 |
Map | rs794728913 |
PheGenI | rs794728913 |
Biobank | rs794728913 |
1000 genomes | rs794728913 |
hgdp | rs794728913 |
ensembl | rs794728913 |
geneview | rs794728913 |
scholar | rs794728913 |
rs794728913 | |
pharmgkb | rs794728913 |
gwascentral | rs794728913 |
openSNP | rs794728913 |
23andMe | rs794728913 |
SNPshot | rs794728913 |
SNPdbe | rs794728913 |
MSV3d | rs794728913 |
GWAS Ctlg | rs794728913 |
Status | Merged into rs397514450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728913(GT;GT) |
Alt | rs794728913(GT;GT) |
Reference | Rs794728913(;) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1E not provided |
Variation | info |
Gene | SCN5A |
CLNDBN | Dilated cardiomyopathy 1E not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.38627418_38627419dupAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010008.4, RCV000183154.1, |