rs1060501127
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTCA;CTCA) | 0 | common in clinvar |
Make rs1060501127(-;-) |
Make rs1060501127(-;CTCA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 38550952 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs1060501127 |
dbSNP (classic) | rs1060501127 |
ClinGen | rs1060501127 |
ebi | rs1060501127 |
HLI | rs1060501127 |
Exac | rs1060501127 |
Gnomad | rs1060501127 |
Varsome | rs1060501127 |
LitVar | rs1060501127 |
Map | rs1060501127 |
PheGenI | rs1060501127 |
Biobank | rs1060501127 |
1000 genomes | rs1060501127 |
hgdp | rs1060501127 |
ensembl | rs1060501127 |
geneview | rs1060501127 |
scholar | rs1060501127 |
rs1060501127 | |
pharmgkb | rs1060501127 |
gwascentral | rs1060501127 |
openSNP | rs1060501127 |
23andMe | rs1060501127 |
SNPshot | rs1060501127 |
SNPdbe | rs1060501127 |
MSV3d | rs1060501127 |
GWAS Ctlg | rs1060501127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501127(-;-) |
Alt | rs1060501127(-;-) |
Reference | Rs1060501127(CTCA;CTCA) |
Significance | Probable-Pathogenic |
Disease | Brugada syndrome |
Variation | info |
Gene | SCN5A |
CLNDBN | Brugada syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.38592443_38592446delTGAG |
CLNSRC | |
CLNACC | RCV000458951.1, |