rs886043136
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Chromosome | 3 |
Position | 193692066 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043136 |
dbSNP (classic) | rs886043136 |
ClinGen | rs886043136 |
ebi | rs886043136 |
HLI | rs886043136 |
Exac | rs886043136 |
Gnomad | rs886043136 |
Varsome | rs886043136 |
LitVar | rs886043136 |
Map | rs886043136 |
PheGenI | rs886043136 |
Biobank | rs886043136 |
1000 genomes | rs886043136 |
hgdp | rs886043136 |
ensembl | rs886043136 |
geneview | rs886043136 |
scholar | rs886043136 |
rs886043136 | |
pharmgkb | rs886043136 |
gwascentral | rs886043136 |
openSNP | rs886043136 |
23andMe | rs886043136 |
SNPshot | rs886043136 |
SNPdbe | rs886043136 |
MSV3d | rs886043136 |
GWAS Ctlg | rs886043136 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043136(-;-) |
Alt | rs886043136(-;-) |
Reference | Rs886043136(AA;AA) |
Significance | Pathogenic |
Disease | Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193409855_193409856delAA |
CLNSRC | |
CLNACC | RCV000300226.1, |