rs398124303
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398124303(A;G) |
Make rs398124303(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 193638064 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124303 |
dbSNP (classic) | rs398124303 |
ClinGen | rs398124303 |
ebi | rs398124303 |
HLI | rs398124303 |
Exac | rs398124303 |
Gnomad | rs398124303 |
Varsome | rs398124303 |
LitVar | rs398124303 |
Map | rs398124303 |
PheGenI | rs398124303 |
Biobank | rs398124303 |
1000 genomes | rs398124303 |
hgdp | rs398124303 |
ensembl | rs398124303 |
geneview | rs398124303 |
scholar | rs398124303 |
rs398124303 | |
pharmgkb | rs398124303 |
gwascentral | rs398124303 |
openSNP | rs398124303 |
23andMe | rs398124303 |
SNPshot | rs398124303 |
SNPdbe | rs398124303 |
MSV3d | rs398124303 |
GWAS Ctlg | rs398124303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124303(C;C) rs398124303(G;G) |
Alt | rs398124303(C;C) rs398124303(G;G) |
Reference | Rs398124303(A;A) |
Significance | Pathogenic |
Disease | not provided Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | not provided Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193355853A>G |
CLNSRC | HGMD |
CLNACC | RCV000081775.4, RCV000180653.3, |