rs794727289
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCTTAAAACT;TCTTAAAACT) | 0 | common in clinvar |
Make rs794727289(-;-) |
Make rs794727289(-;TTAAAACTTC) |
Make rs794727289(TTAAAACTTC;TTAAAACTTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 193614982 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727289 |
dbSNP (classic) | rs794727289 |
ClinGen | rs794727289 |
ebi | rs794727289 |
HLI | rs794727289 |
Exac | rs794727289 |
Gnomad | rs794727289 |
Varsome | rs794727289 |
LitVar | rs794727289 |
Map | rs794727289 |
PheGenI | rs794727289 |
Biobank | rs794727289 |
1000 genomes | rs794727289 |
hgdp | rs794727289 |
ensembl | rs794727289 |
geneview | rs794727289 |
scholar | rs794727289 |
rs794727289 | |
pharmgkb | rs794727289 |
gwascentral | rs794727289 |
openSNP | rs794727289 |
23andMe | rs794727289 |
SNPshot | rs794727289 |
SNPdbe | rs794727289 |
MSV3d | rs794727289 |
GWAS Ctlg | rs794727289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727289(-;-) |
Alt | rs794727289(-;-) |
Reference | Rs794727289(TCTTAAAACT;TCTTAAAACT) |
Significance | Pathogenic |
Disease | Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193332771_193332780delTTAAAACTTC |
CLNSRC | |
CLNACC | RCV000175871.1, |