rs398124301
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398124301(C;T) |
Make rs398124301(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 193658977 |
Gene | LOC102724808, OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124301 |
dbSNP (classic) | rs398124301 |
ClinGen | rs398124301 |
ebi | rs398124301 |
HLI | rs398124301 |
Exac | rs398124301 |
Gnomad | rs398124301 |
Varsome | rs398124301 |
LitVar | rs398124301 |
Map | rs398124301 |
PheGenI | rs398124301 |
Biobank | rs398124301 |
1000 genomes | rs398124301 |
hgdp | rs398124301 |
ensembl | rs398124301 |
geneview | rs398124301 |
scholar | rs398124301 |
rs398124301 | |
pharmgkb | rs398124301 |
gwascentral | rs398124301 |
openSNP | rs398124301 |
23andMe | rs398124301 |
SNPshot | rs398124301 |
SNPdbe | rs398124301 |
MSV3d | rs398124301 |
GWAS Ctlg | rs398124301 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124301(T;T) |
Alt | rs398124301(T;T) |
Reference | Rs398124301(C;C) |
Significance | Pathogenic |
Disease | not provided Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 LOC101929213 |
CLNDBN | not provided Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193376766C>T |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000081760.3, RCV000176319.1, |