rs745927258
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs745927258(C;C) |
Make rs745927258(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 193643050 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs745927258 |
dbSNP (classic) | rs745927258 |
ClinGen | rs745927258 |
ebi | rs745927258 |
HLI | rs745927258 |
Exac | rs745927258 |
Gnomad | rs745927258 |
Varsome | rs745927258 |
LitVar | rs745927258 |
Map | rs745927258 |
PheGenI | rs745927258 |
Biobank | rs745927258 |
1000 genomes | rs745927258 |
hgdp | rs745927258 |
ensembl | rs745927258 |
geneview | rs745927258 |
scholar | rs745927258 |
rs745927258 | |
pharmgkb | rs745927258 |
gwascentral | rs745927258 |
openSNP | rs745927258 |
23andMe | rs745927258 |
SNPshot | rs745927258 |
SNPdbe | rs745927258 |
MSV3d | rs745927258 |
GWAS Ctlg | rs745927258 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745927258(A;A) rs745927258(C;C) |
Alt | rs745927258(A;A) rs745927258(C;C) |
Reference | Rs745927258(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.193360839G>A |
CLNSRC | |
CLNACC | RCV000379393.1, |