rs1057517679
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057517679(A;G) |
Make rs1057517679(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 105449391 |
Gene | PPA2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517679 |
dbSNP (classic) | rs1057517679 |
ClinGen | rs1057517679 |
ebi | rs1057517679 |
HLI | rs1057517679 |
Exac | rs1057517679 |
Gnomad | rs1057517679 |
Varsome | rs1057517679 |
LitVar | rs1057517679 |
Map | rs1057517679 |
PheGenI | rs1057517679 |
Biobank | rs1057517679 |
1000 genomes | rs1057517679 |
hgdp | rs1057517679 |
ensembl | rs1057517679 |
geneview | rs1057517679 |
scholar | rs1057517679 |
rs1057517679 | |
pharmgkb | rs1057517679 |
gwascentral | rs1057517679 |
openSNP | rs1057517679 |
23andMe | rs1057517679 |
SNPshot | rs1057517679 |
SNPdbe | rs1057517679 |
MSV3d | rs1057517679 |
GWAS Ctlg | rs1057517679 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517679(G;G) |
Alt | rs1057517679(G;G) |
Reference | Rs1057517679(A;A) |
Significance | Pathogenic |
Disease | Sudden cardiac failure |
Variation | info |
Gene | PPA2 |
CLNDBN | Sudden cardiac failure, infantile |
Reversed | 1 |
HGVS | NC_000004.11:g.106370548T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412577.1, |