rs111517471
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(C;C) | 0 | common in clinvar |
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
Make rs111517471(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 32796108 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs111517471 |
dbSNP (classic) | rs111517471 |
ClinGen | rs111517471 |
ebi | rs111517471 |
HLI | rs111517471 |
Exac | rs111517471 |
Gnomad | rs111517471 |
Varsome | rs111517471 |
LitVar | rs111517471 |
Map | rs111517471 |
PheGenI | rs111517471 |
Biobank | rs111517471 |
1000 genomes | rs111517471 |
hgdp | rs111517471 |
ensembl | rs111517471 |
geneview | rs111517471 |
scholar | rs111517471 |
rs111517471 | |
pharmgkb | rs111517471 |
gwascentral | rs111517471 |
openSNP | rs111517471 |
23andMe | rs111517471 |
SNPshot | rs111517471 |
SNPdbe | rs111517471 |
MSV3d | rs111517471 |
GWAS Ctlg | rs111517471 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs111517471(A;A) rs111517471(G;G) rs111517471(T;T) |
Alt | rs111517471(A;A) rs111517471(G;G) rs111517471(T;T) |
Reference | Rs111517471(C;C) |
Significance | Other |
Disease | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | PKP2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 9 |
Reversed | 0 |
HGVS | NC_000012.11:g.32949042C>A; NC_000012.11:g.32949042C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000038212.2, RCV000183715.1, RCV000007149.6, RCV000157417.1, RCV000183714.4, |