rs539286945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs539286945(A;A) |
Make rs539286945(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 49861679 |
Gene | PNKP |
is a | snp |
is | mentioned by |
dbSNP | rs539286945 |
dbSNP (classic) | rs539286945 |
ClinGen | rs539286945 |
ebi | rs539286945 |
HLI | rs539286945 |
Exac | rs539286945 |
Gnomad | rs539286945 |
Varsome | rs539286945 |
LitVar | rs539286945 |
Map | rs539286945 |
PheGenI | rs539286945 |
Biobank | rs539286945 |
1000 genomes | rs539286945 |
hgdp | rs539286945 |
ensembl | rs539286945 |
geneview | rs539286945 |
scholar | rs539286945 |
rs539286945 | |
pharmgkb | rs539286945 |
gwascentral | rs539286945 |
openSNP | rs539286945 |
23andMe | rs539286945 |
SNPshot | rs539286945 |
SNPdbe | rs539286945 |
MSV3d | rs539286945 |
GWAS Ctlg | rs539286945 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs539286945(A;A) |
Alt | rs539286945(A;A) |
Reference | Rs539286945(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PNKP |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.50364936G>A |
CLNSRC | |
CLNACC | RCV000434738.1, |