rs879255510
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255510(A;A) |
Make rs879255510(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 193642764 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs879255510 |
dbSNP (classic) | rs879255510 |
ClinGen | rs879255510 |
ebi | rs879255510 |
HLI | rs879255510 |
Exac | rs879255510 |
Gnomad | rs879255510 |
Varsome | rs879255510 |
LitVar | rs879255510 |
Map | rs879255510 |
PheGenI | rs879255510 |
Biobank | rs879255510 |
1000 genomes | rs879255510 |
hgdp | rs879255510 |
ensembl | rs879255510 |
geneview | rs879255510 |
scholar | rs879255510 |
rs879255510 | |
pharmgkb | rs879255510 |
gwascentral | rs879255510 |
openSNP | rs879255510 |
23andMe | rs879255510 |
SNPshot | rs879255510 |
SNPdbe | rs879255510 |
MSV3d | rs879255510 |
GWAS Ctlg | rs879255510 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255510(A;A) |
Alt | rs879255510(A;A) |
Reference | Rs879255510(G;G) |
Significance | Pathogenic |
Disease | Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193360553G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005386.2, |