rs796052860
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796052860(-;AGCCGCG) |
Make rs796052860(AGCCGCG;AGCCGCG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 49861775 |
Gene | PNKP |
is a | snp |
is | mentioned by |
dbSNP | rs796052860 |
dbSNP (classic) | rs796052860 |
ClinGen | rs796052860 |
ebi | rs796052860 |
HLI | rs796052860 |
Exac | rs796052860 |
Gnomad | rs796052860 |
Varsome | rs796052860 |
LitVar | rs796052860 |
Map | rs796052860 |
PheGenI | rs796052860 |
Biobank | rs796052860 |
1000 genomes | rs796052860 |
hgdp | rs796052860 |
ensembl | rs796052860 |
geneview | rs796052860 |
scholar | rs796052860 |
rs796052860 | |
pharmgkb | rs796052860 |
gwascentral | rs796052860 |
openSNP | rs796052860 |
23andMe | rs796052860 |
SNPshot | rs796052860 |
SNPdbe | rs796052860 |
MSV3d | rs796052860 |
GWAS Ctlg | rs796052860 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052860(AGCCGCG;AGCCGCG) |
Alt | rs796052860(AGCCGCG;AGCCGCG) |
Reference | Rs796052860(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PNKP |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.50365033_50365039dupCGCGGCT |
CLNSRC | |
CLNACC | RCV000188470.1, |