rs863225277
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863225277(A;G) |
Make rs863225277(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 193643625 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225277 |
dbSNP (classic) | rs863225277 |
ClinGen | rs863225277 |
ebi | rs863225277 |
HLI | rs863225277 |
Exac | rs863225277 |
Gnomad | rs863225277 |
Varsome | rs863225277 |
LitVar | rs863225277 |
Map | rs863225277 |
PheGenI | rs863225277 |
Biobank | rs863225277 |
1000 genomes | rs863225277 |
hgdp | rs863225277 |
ensembl | rs863225277 |
geneview | rs863225277 |
scholar | rs863225277 |
rs863225277 | |
pharmgkb | rs863225277 |
gwascentral | rs863225277 |
openSNP | rs863225277 |
23andMe | rs863225277 |
SNPshot | rs863225277 |
SNPdbe | rs863225277 |
MSV3d | rs863225277 |
GWAS Ctlg | rs863225277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225277(G;G) |
Alt | rs863225277(G;G) |
Reference | Rs863225277(A;A) |
Significance | Pathogenic |
Disease | Dominant hereditary optic atrophy not provided |
Variation | info |
Gene | OPA1 |
CLNDBN | Dominant hereditary optic atrophy not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.193361414A>G |
CLNSRC | |
CLNACC | RCV000201926.1, RCV000274390.1, |