rs34928857
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs34928857(C;C) |
Make rs34928857(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 55673071 |
Gene | PNPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs34928857 |
dbSNP (classic) | rs34928857 |
ClinGen | rs34928857 |
ebi | rs34928857 |
HLI | rs34928857 |
Exac | rs34928857 |
Gnomad | rs34928857 |
Varsome | rs34928857 |
LitVar | rs34928857 |
Map | rs34928857 |
PheGenI | rs34928857 |
Biobank | rs34928857 |
1000 genomes | rs34928857 |
hgdp | rs34928857 |
ensembl | rs34928857 |
geneview | rs34928857 |
scholar | rs34928857 |
rs34928857 | |
pharmgkb | rs34928857 |
gwascentral | rs34928857 |
openSNP | rs34928857 |
23andMe | rs34928857 |
SNPshot | rs34928857 |
SNPdbe | rs34928857 |
MSV3d | rs34928857 |
GWAS Ctlg | rs34928857 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34928857(C;C) |
Alt | rs34928857(C;C) |
Reference | Rs34928857(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | PNPT1 |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000002.11:g.55900206C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000199246.3, |