rs796052861
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796052861(-;CGCCAGGT) |
Make rs796052861(CGCCAGGT;CGCCAGGT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 49861769 |
Gene | PNKP |
is a | snp |
is | mentioned by |
dbSNP | rs796052861 |
dbSNP (classic) | rs796052861 |
ClinGen | rs796052861 |
ebi | rs796052861 |
HLI | rs796052861 |
Exac | rs796052861 |
Gnomad | rs796052861 |
Varsome | rs796052861 |
LitVar | rs796052861 |
Map | rs796052861 |
PheGenI | rs796052861 |
Biobank | rs796052861 |
1000 genomes | rs796052861 |
hgdp | rs796052861 |
ensembl | rs796052861 |
geneview | rs796052861 |
scholar | rs796052861 |
rs796052861 | |
pharmgkb | rs796052861 |
gwascentral | rs796052861 |
openSNP | rs796052861 |
23andMe | rs796052861 |
SNPshot | rs796052861 |
SNPdbe | rs796052861 |
MSV3d | rs796052861 |
GWAS Ctlg | rs796052861 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052861(CGCCAGGT;CGCCAGGT) |
Alt | rs796052861(CGCCAGGT;CGCCAGGT) |
Reference | Rs796052861(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PNKP |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.50365027_50365034dupACCTGGCG |
CLNSRC | |
CLNACC | RCV000188472.1, |