rs745539599
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs745539599(A;A) |
Make rs745539599(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 89329042 |
Gene | POLG |
is a | snp |
is | mentioned by |
dbSNP | rs745539599 |
dbSNP (classic) | rs745539599 |
ClinGen | rs745539599 |
ebi | rs745539599 |
HLI | rs745539599 |
Exac | rs745539599 |
Gnomad | rs745539599 |
Varsome | rs745539599 |
LitVar | rs745539599 |
Map | rs745539599 |
PheGenI | rs745539599 |
Biobank | rs745539599 |
1000 genomes | rs745539599 |
hgdp | rs745539599 |
ensembl | rs745539599 |
geneview | rs745539599 |
scholar | rs745539599 |
rs745539599 | |
pharmgkb | rs745539599 |
gwascentral | rs745539599 |
openSNP | rs745539599 |
23andMe | rs745539599 |
SNPshot | rs745539599 |
SNPdbe | rs745539599 |
MSV3d | rs745539599 |
GWAS Ctlg | rs745539599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745539599(A;A) |
Alt | rs745539599(A;A) |
Reference | Rs745539599(C;C) |
Significance | Probable-Pathogenic |
Disease | Sensory ataxic neuropathy |
Variation | info |
Gene | POLG |
CLNDBN | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
Reversed | 0 |
HGVS | NC_000015.9:g.89872273C>A |
CLNSRC | |
CLNACC | RCV000258814.1, |