rs113994101
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 3 | Carrier of a POLG mutation |
Make rs113994101(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 89317388 |
Gene | FANCI, POLG |
is a | snp |
is | mentioned by |
dbSNP | rs113994101 |
dbSNP (classic) | rs113994101 |
ClinGen | rs113994101 |
ebi | rs113994101 |
HLI | rs113994101 |
Exac | rs113994101 |
Gnomad | rs113994101 |
Varsome | rs113994101 |
LitVar | rs113994101 |
Map | rs113994101 |
PheGenI | rs113994101 |
Biobank | rs113994101 |
1000 genomes | rs113994101 |
hgdp | rs113994101 |
ensembl | rs113994101 |
geneview | rs113994101 |
scholar | rs113994101 |
rs113994101 | |
pharmgkb | rs113994101 |
gwascentral | rs113994101 |
openSNP | rs113994101 |
23andMe | rs113994101 |
SNPshot | rs113994101 |
SNPdbe | rs113994101 |
MSV3d | rs113994101 |
GWAS Ctlg | rs113994101 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs113994101(C;C) |
Alt | rs113994101(C;C) |
Reference | Rs113994101(-;-) |
Significance | Pathogenic |
Disease | Mitochondrial diseases |
Variation | info |
Gene | POLG FANCI |
CLNDBN | Mitochondrial diseases |
Reversed | 1 |
HGVS | NC_000015.9:g.89860620dupG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020479.1, |