rs137893343
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137893343(C;C) |
Make rs137893343(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 55672026 |
Gene | PNPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs137893343 |
dbSNP (classic) | rs137893343 |
ClinGen | rs137893343 |
ebi | rs137893343 |
HLI | rs137893343 |
Exac | rs137893343 |
Gnomad | rs137893343 |
Varsome | rs137893343 |
LitVar | rs137893343 |
Map | rs137893343 |
PheGenI | rs137893343 |
Biobank | rs137893343 |
1000 genomes | rs137893343 |
hgdp | rs137893343 |
ensembl | rs137893343 |
geneview | rs137893343 |
scholar | rs137893343 |
rs137893343 | |
pharmgkb | rs137893343 |
gwascentral | rs137893343 |
openSNP | rs137893343 |
23andMe | rs137893343 |
SNPshot | rs137893343 |
SNPdbe | rs137893343 |
MSV3d | rs137893343 |
GWAS Ctlg | rs137893343 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137893343(C;C) |
Alt | rs137893343(C;C) |
Reference | Rs137893343(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | PNPT1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.55899161T>C |
CLNSRC | |
CLNACC | RCV000200039.1, |