rs794727804
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs794727804(-;-) |
Make rs794727804(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 193631622 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727804 |
dbSNP (classic) | rs794727804 |
ClinGen | rs794727804 |
ebi | rs794727804 |
HLI | rs794727804 |
Exac | rs794727804 |
Gnomad | rs794727804 |
Varsome | rs794727804 |
LitVar | rs794727804 |
Map | rs794727804 |
PheGenI | rs794727804 |
Biobank | rs794727804 |
1000 genomes | rs794727804 |
hgdp | rs794727804 |
ensembl | rs794727804 |
geneview | rs794727804 |
scholar | rs794727804 |
rs794727804 | |
pharmgkb | rs794727804 |
gwascentral | rs794727804 |
openSNP | rs794727804 |
23andMe | rs794727804 |
SNPshot | rs794727804 |
SNPdbe | rs794727804 |
MSV3d | rs794727804 |
GWAS Ctlg | rs794727804 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727804(-;-) |
Alt | rs794727804(-;-) |
Reference | Rs794727804(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.193349411_193349412delAA |
CLNSRC | |
CLNACC | RCV000179491.2, |