rs104893752
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893752(C;T) |
Make rs104893752(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 193638015 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893752 |
dbSNP (classic) | rs104893752 |
ClinGen | rs104893752 |
ebi | rs104893752 |
HLI | rs104893752 |
Exac | rs104893752 |
Gnomad | rs104893752 |
Varsome | rs104893752 |
LitVar | rs104893752 |
Map | rs104893752 |
PheGenI | rs104893752 |
Biobank | rs104893752 |
1000 genomes | rs104893752 |
hgdp | rs104893752 |
ensembl | rs104893752 |
geneview | rs104893752 |
scholar | rs104893752 |
rs104893752 | |
pharmgkb | rs104893752 |
gwascentral | rs104893752 |
openSNP | rs104893752 |
23andMe | rs104893752 |
SNPshot | rs104893752 |
SNPdbe | rs104893752 |
MSV3d | rs104893752 |
GWAS Ctlg | rs104893752 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893752(T;T) |
Alt | rs104893752(T;T) |
Reference | Rs104893752(C;C) |
Significance | Untested |
Disease | Dominant hereditary optic atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | Dominant hereditary optic atrophy |
Reversed | 0 |
HGVS | NC_000003.11:g.193355804C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000025570.1, SCV000025570.1, |