rs794729123
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs794729123(-;-) |
Make rs794729123(-;CT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 32878205 |
Gene | PKP2 |
is a | snp |
is | mentioned by |
dbSNP | rs794729123 |
dbSNP (classic) | rs794729123 |
ClinGen | rs794729123 |
ebi | rs794729123 |
HLI | rs794729123 |
Exac | rs794729123 |
Gnomad | rs794729123 |
Varsome | rs794729123 |
LitVar | rs794729123 |
Map | rs794729123 |
PheGenI | rs794729123 |
Biobank | rs794729123 |
1000 genomes | rs794729123 |
hgdp | rs794729123 |
ensembl | rs794729123 |
geneview | rs794729123 |
scholar | rs794729123 |
rs794729123 | |
pharmgkb | rs794729123 |
gwascentral | rs794729123 |
openSNP | rs794729123 |
23andMe | rs794729123 |
SNPshot | rs794729123 |
SNPdbe | rs794729123 |
MSV3d | rs794729123 |
GWAS Ctlg | rs794729123 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729123(-;-) |
Alt | rs794729123(-;-) |
Reference | Rs794729123(CT;CT) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PKP2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.33031139_33031140delAG |
CLNSRC | |
CLNACC | RCV000183784.1, |