rs199919568
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199919568(A;G) |
Make rs199919568(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 49862369 |
Gene | PNKP |
is a | snp |
is | mentioned by |
dbSNP | rs199919568 |
dbSNP (classic) | rs199919568 |
ClinGen | rs199919568 |
ebi | rs199919568 |
HLI | rs199919568 |
Exac | rs199919568 |
Gnomad | rs199919568 |
Varsome | rs199919568 |
LitVar | rs199919568 |
Map | rs199919568 |
PheGenI | rs199919568 |
Biobank | rs199919568 |
1000 genomes | rs199919568 |
hgdp | rs199919568 |
ensembl | rs199919568 |
geneview | rs199919568 |
scholar | rs199919568 |
rs199919568 | |
pharmgkb | rs199919568 |
gwascentral | rs199919568 |
openSNP | rs199919568 |
23andMe | rs199919568 |
SNPshot | rs199919568 |
SNPdbe | rs199919568 |
MSV3d | rs199919568 |
GWAS Ctlg | rs199919568 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199919568(G;G) |
Alt | rs199919568(G;G) |
Reference | Rs199919568(A;A) |
Significance | Pathogenic |
Disease | not specified |
Variation | info |
Gene | PNKP |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000019.9:g.50365626A>G |
CLNSRC | |
CLNACC | RCV000188445.2, |