rs794727345
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs794727345(-;-) |
Make rs794727345(-;GA) |
Make rs794727345(GA;GA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 193657125 |
Gene | LOC102724808, OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727345 |
dbSNP (classic) | rs794727345 |
ClinGen | rs794727345 |
ebi | rs794727345 |
HLI | rs794727345 |
Exac | rs794727345 |
Gnomad | rs794727345 |
Varsome | rs794727345 |
LitVar | rs794727345 |
Map | rs794727345 |
PheGenI | rs794727345 |
Biobank | rs794727345 |
1000 genomes | rs794727345 |
hgdp | rs794727345 |
ensembl | rs794727345 |
geneview | rs794727345 |
scholar | rs794727345 |
rs794727345 | |
pharmgkb | rs794727345 |
gwascentral | rs794727345 |
openSNP | rs794727345 |
23andMe | rs794727345 |
SNPshot | rs794727345 |
SNPdbe | rs794727345 |
MSV3d | rs794727345 |
GWAS Ctlg | rs794727345 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727345(-;-) |
Alt | rs794727345(-;-) |
Reference | Rs794727345(AG;AG) |
Significance | Pathogenic |
Disease | Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 LOC101929213 |
CLNDBN | Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193374914_193374915delGA |
CLNSRC | |
CLNACC | RCV000176222.1, |