rs780383722
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780383722(A;A) |
Make rs780383722(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 55684952 |
Gene | PNPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs780383722 |
dbSNP (classic) | rs780383722 |
ClinGen | rs780383722 |
ebi | rs780383722 |
HLI | rs780383722 |
Exac | rs780383722 |
Gnomad | rs780383722 |
Varsome | rs780383722 |
LitVar | rs780383722 |
Map | rs780383722 |
PheGenI | rs780383722 |
Biobank | rs780383722 |
1000 genomes | rs780383722 |
hgdp | rs780383722 |
ensembl | rs780383722 |
geneview | rs780383722 |
scholar | rs780383722 |
rs780383722 | |
pharmgkb | rs780383722 |
gwascentral | rs780383722 |
openSNP | rs780383722 |
23andMe | rs780383722 |
SNPshot | rs780383722 |
SNPdbe | rs780383722 |
MSV3d | rs780383722 |
GWAS Ctlg | rs780383722 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780383722(A;A) |
Alt | rs780383722(A;A) |
Reference | Rs780383722(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PNPT1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.55912087G>A |
CLNSRC | |
CLNACC | RCV000197484.1, |