rs398124297
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs398124297(-;-) |
Make rs398124297(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 193644014 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124297 |
dbSNP (classic) | rs398124297 |
ClinGen | rs398124297 |
ebi | rs398124297 |
HLI | rs398124297 |
Exac | rs398124297 |
Gnomad | rs398124297 |
Varsome | rs398124297 |
LitVar | rs398124297 |
Map | rs398124297 |
PheGenI | rs398124297 |
Biobank | rs398124297 |
1000 genomes | rs398124297 |
hgdp | rs398124297 |
ensembl | rs398124297 |
geneview | rs398124297 |
scholar | rs398124297 |
rs398124297 | |
pharmgkb | rs398124297 |
gwascentral | rs398124297 |
openSNP | rs398124297 |
23andMe | rs398124297 |
SNPshot | rs398124297 |
SNPdbe | rs398124297 |
MSV3d | rs398124297 |
GWAS Ctlg | rs398124297 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124297(-;-) |
Alt | rs398124297(-;-) |
Reference | Rs398124297(T;T) |
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.193361803delT |
CLNSRC | ClinVar |
CLNACC | RCV000081750.3, RCV000174779.1, |