rs201936720
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201936720(C;C) |
Make rs201936720(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 64485733 |
Gene | POLG2 |
is a | snp |
is | mentioned by |
dbSNP | rs201936720 |
dbSNP (classic) | rs201936720 |
ClinGen | rs201936720 |
ebi | rs201936720 |
HLI | rs201936720 |
Exac | rs201936720 |
Gnomad | rs201936720 |
Varsome | rs201936720 |
LitVar | rs201936720 |
Map | rs201936720 |
PheGenI | rs201936720 |
Biobank | rs201936720 |
1000 genomes | rs201936720 |
hgdp | rs201936720 |
ensembl | rs201936720 |
geneview | rs201936720 |
scholar | rs201936720 |
rs201936720 | |
pharmgkb | rs201936720 |
gwascentral | rs201936720 |
openSNP | rs201936720 |
23andMe | rs201936720 |
SNPshot | rs201936720 |
SNPdbe | rs201936720 |
MSV3d | rs201936720 |
GWAS Ctlg | rs201936720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201936720(C;C) |
Alt | rs201936720(C;C) |
Reference | Rs201936720(T;T) |
Significance | Probable-non-pathogenic |
Disease | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 not specified Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions |
Variation | info |
Gene | MILR1 POLG2 |
CLNDBN | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 not specified Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions |
Reversed | 0 |
HGVS | NC_000017.10:g.62481850T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033246.4, RCV000198981.2, RCV000280484.1, |