rs7624750
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs7624750(A;A) |
Make rs7624750(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 193617202 |
Gene | OPA1 |
is a | snp |
is | mentioned by |
dbSNP | rs7624750 |
dbSNP (classic) | rs7624750 |
ClinGen | rs7624750 |
ebi | rs7624750 |
HLI | rs7624750 |
Exac | rs7624750 |
Gnomad | rs7624750 |
Varsome | rs7624750 |
LitVar | rs7624750 |
Map | rs7624750 |
PheGenI | rs7624750 |
Biobank | rs7624750 |
1000 genomes | rs7624750 |
hgdp | rs7624750 |
ensembl | rs7624750 |
geneview | rs7624750 |
scholar | rs7624750 |
rs7624750 | |
pharmgkb | rs7624750 |
gwascentral | rs7624750 |
openSNP | rs7624750 |
23andMe | rs7624750 |
SNPshot | rs7624750 |
SNPdbe | rs7624750 |
MSV3d | rs7624750 |
GWAS Ctlg | rs7624750 |
GMAF | 0.4573 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs7624750(A;A) |
Alt | rs7624750(A;A) |
Reference | Rs7624750(G;G) |
Significance | Non-pathogenic |
Disease | not specified Optic Atrophy |
Variation | info |
Gene | OPA1 |
CLNDBN | not specified Optic Atrophy, Dominant |
Reversed | 0 |
HGVS | NC_000003.11:g.193334991G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081768.7, RCV000339112.1, |