rs375781731
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375781731(A;A) |
Make rs375781731(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 49865135 |
Gene | PNKP |
is a | snp |
is | mentioned by |
dbSNP | rs375781731 |
dbSNP (classic) | rs375781731 |
ClinGen | rs375781731 |
ebi | rs375781731 |
HLI | rs375781731 |
Exac | rs375781731 |
Gnomad | rs375781731 |
Varsome | rs375781731 |
LitVar | rs375781731 |
Map | rs375781731 |
PheGenI | rs375781731 |
Biobank | rs375781731 |
1000 genomes | rs375781731 |
hgdp | rs375781731 |
ensembl | rs375781731 |
geneview | rs375781731 |
scholar | rs375781731 |
rs375781731 | |
pharmgkb | rs375781731 |
gwascentral | rs375781731 |
openSNP | rs375781731 |
23andMe | rs375781731 |
SNPshot | rs375781731 |
SNPdbe | rs375781731 |
MSV3d | rs375781731 |
GWAS Ctlg | rs375781731 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375781731(A;A) |
Alt | rs375781731(A;A) |
Reference | Rs375781731(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PNKP |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.50368392G>A |
CLNSRC | |
CLNACC | RCV000188429.2, |