rs1060501188
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1060501188(A;C) |
Make rs1060501188(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 32792494 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501188 |
dbSNP (classic) | rs1060501188 |
ClinGen | rs1060501188 |
ebi | rs1060501188 |
HLI | rs1060501188 |
Exac | rs1060501188 |
Gnomad | rs1060501188 |
Varsome | rs1060501188 |
LitVar | rs1060501188 |
Map | rs1060501188 |
PheGenI | rs1060501188 |
Biobank | rs1060501188 |
1000 genomes | rs1060501188 |
hgdp | rs1060501188 |
ensembl | rs1060501188 |
geneview | rs1060501188 |
scholar | rs1060501188 |
rs1060501188 | |
pharmgkb | rs1060501188 |
gwascentral | rs1060501188 |
openSNP | rs1060501188 |
23andMe | rs1060501188 |
SNPshot | rs1060501188 |
SNPdbe | rs1060501188 |
MSV3d | rs1060501188 |
GWAS Ctlg | rs1060501188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501188(C;C) |
Alt | rs1060501188(C;C) |
Reference | Rs1060501188(A;A) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 1 |
HGVS | NC_000012.11:g.32945428T>G |
CLNSRC | |
CLNACC | RCV000477569.1, |