rs750550558
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs750550558(-;TT) |
Make rs750550558(TT;TT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 49862180 |
Gene | PNKP |
is a | snp |
is | mentioned by |
dbSNP | rs750550558 |
dbSNP (classic) | rs750550558 |
ClinGen | rs750550558 |
ebi | rs750550558 |
HLI | rs750550558 |
Exac | rs750550558 |
Gnomad | rs750550558 |
Varsome | rs750550558 |
LitVar | rs750550558 |
Map | rs750550558 |
PheGenI | rs750550558 |
Biobank | rs750550558 |
1000 genomes | rs750550558 |
hgdp | rs750550558 |
ensembl | rs750550558 |
geneview | rs750550558 |
scholar | rs750550558 |
rs750550558 | |
pharmgkb | rs750550558 |
gwascentral | rs750550558 |
openSNP | rs750550558 |
23andMe | rs750550558 |
SNPshot | rs750550558 |
SNPdbe | rs750550558 |
MSV3d | rs750550558 |
GWAS Ctlg | rs750550558 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750550558(TT;TT) |
Alt | rs750550558(TT;TT) |
Reference | Rs750550558(-;-) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | PNKP |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.50365438_50365439dupTT |
CLNSRC | |
CLNACC | RCV000188469.1, |