rs28939082
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28939082(A;A) |
Make rs28939082(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 193637980 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs28939082 |
dbSNP (classic) | rs28939082 |
ClinGen | rs28939082 |
ebi | rs28939082 |
HLI | rs28939082 |
Exac | rs28939082 |
Gnomad | rs28939082 |
Varsome | rs28939082 |
LitVar | rs28939082 |
Map | rs28939082 |
PheGenI | rs28939082 |
Biobank | rs28939082 |
1000 genomes | rs28939082 |
hgdp | rs28939082 |
ensembl | rs28939082 |
geneview | rs28939082 |
scholar | rs28939082 |
rs28939082 | |
pharmgkb | rs28939082 |
gwascentral | rs28939082 |
openSNP | rs28939082 |
23andMe | rs28939082 |
SNPshot | rs28939082 |
SNPdbe | rs28939082 |
MSV3d | rs28939082 |
GWAS Ctlg | rs28939082 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939082(A;A) |
Alt | rs28939082(A;A) |
Reference | Rs28939082(G;G) |
Significance | Pathogenic |
Disease | Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193355769G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005385.2, |