rs200343561
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200343561(C;C) |
Make rs200343561(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32841047 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs200343561 |
dbSNP (classic) | rs200343561 |
ClinGen | rs200343561 |
ebi | rs200343561 |
HLI | rs200343561 |
Exac | rs200343561 |
Gnomad | rs200343561 |
Varsome | rs200343561 |
LitVar | rs200343561 |
Map | rs200343561 |
PheGenI | rs200343561 |
Biobank | rs200343561 |
1000 genomes | rs200343561 |
hgdp | rs200343561 |
ensembl | rs200343561 |
geneview | rs200343561 |
scholar | rs200343561 |
rs200343561 | |
pharmgkb | rs200343561 |
gwascentral | rs200343561 |
openSNP | rs200343561 |
23andMe | rs200343561 |
SNPshot | rs200343561 |
SNPdbe | rs200343561 |
MSV3d | rs200343561 |
GWAS Ctlg | rs200343561 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200343561(C;C) |
Alt | rs200343561(C;C) |
Reference | Rs200343561(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | PKP2 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.32993981T>C |
CLNSRC | |
CLNACC | RCV000183749.2, |