rs1060499940
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACT;ACT) | 0 | common in clinvar |
Make rs1060499940(-;-) |
Make rs1060499940(-;ACT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 38597805 |
Gene | SCN5A |
is a | snp |
is | mentioned by |
dbSNP | rs1060499940 |
dbSNP (classic) | rs1060499940 |
ClinGen | rs1060499940 |
ebi | rs1060499940 |
HLI | rs1060499940 |
Exac | rs1060499940 |
Gnomad | rs1060499940 |
Varsome | rs1060499940 |
LitVar | rs1060499940 |
Map | rs1060499940 |
PheGenI | rs1060499940 |
Biobank | rs1060499940 |
1000 genomes | rs1060499940 |
hgdp | rs1060499940 |
ensembl | rs1060499940 |
geneview | rs1060499940 |
scholar | rs1060499940 |
rs1060499940 | |
pharmgkb | rs1060499940 |
gwascentral | rs1060499940 |
openSNP | rs1060499940 |
23andMe | rs1060499940 |
SNPshot | rs1060499940 |
SNPdbe | rs1060499940 |
MSV3d | rs1060499940 |
GWAS Ctlg | rs1060499940 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499940(-;-) |
Alt | rs1060499940(-;-) |
Reference | Rs1060499940(ACT;ACT) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular dysplasia/cardiomyopathy |
Variation | info |
Gene | SCN5A |
CLNDBN | Arrhythmogenic right ventricular dysplasia/cardiomyopathy |
Reversed | 1 |
HGVS | NC_000003.11:g.38639296_38639298delAGT |
CLNSRC | |
CLNACC | RCV000458183.1, |