rs879255560
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGTT;AGTT) | 0 | common in clinvar |
Make rs879255560(-;-) |
Make rs879255560(-;TTAG) |
Make rs879255560(TTAG;TTAG) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 193692069 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs879255560 |
dbSNP (classic) | rs879255560 |
ClinGen | rs879255560 |
ebi | rs879255560 |
HLI | rs879255560 |
Exac | rs879255560 |
Gnomad | rs879255560 |
Varsome | rs879255560 |
LitVar | rs879255560 |
Map | rs879255560 |
PheGenI | rs879255560 |
Biobank | rs879255560 |
1000 genomes | rs879255560 |
hgdp | rs879255560 |
ensembl | rs879255560 |
geneview | rs879255560 |
scholar | rs879255560 |
rs879255560 | |
pharmgkb | rs879255560 |
gwascentral | rs879255560 |
openSNP | rs879255560 |
23andMe | rs879255560 |
SNPshot | rs879255560 |
SNPdbe | rs879255560 |
MSV3d | rs879255560 |
GWAS Ctlg | rs879255560 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255560(-;-) |
Alt | rs879255560(-;-) |
Reference | Rs879255560(AGTT;AGTT) |
Significance | Pathogenic |
Disease | Dominant hereditary optic atrophy not provided |
Variation | info |
Gene | OPA1 |
CLNDBN | Dominant hereditary optic atrophy not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.193409858_193409861delTTAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005388.2, RCV000355298.1, |