rs530757118
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs530757118(C;C) |
Make rs530757118(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 89318989 |
Gene | POLG |
is a | snp |
is | mentioned by |
dbSNP | rs530757118 |
dbSNP (classic) | rs530757118 |
ClinGen | rs530757118 |
ebi | rs530757118 |
HLI | rs530757118 |
Exac | rs530757118 |
Gnomad | rs530757118 |
Varsome | rs530757118 |
LitVar | rs530757118 |
Map | rs530757118 |
PheGenI | rs530757118 |
Biobank | rs530757118 |
1000 genomes | rs530757118 |
hgdp | rs530757118 |
ensembl | rs530757118 |
geneview | rs530757118 |
scholar | rs530757118 |
rs530757118 | |
pharmgkb | rs530757118 |
gwascentral | rs530757118 |
openSNP | rs530757118 |
23andMe | rs530757118 |
SNPshot | rs530757118 |
SNPdbe | rs530757118 |
MSV3d | rs530757118 |
GWAS Ctlg | rs530757118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs530757118(C;C) |
Alt | rs530757118(C;C) |
Reference | Rs530757118(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | POLG |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000015.9:g.89862220G>C |
CLNSRC | |
CLNACC | RCV000188609.2, |