rs104894031
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894031(A;A) |
Make rs104894031(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 128775556 |
Gene | OPN1SW |
is a | snp |
is | mentioned by |
dbSNP | rs104894031 |
dbSNP (classic) | rs104894031 |
ClinGen | rs104894031 |
ebi | rs104894031 |
HLI | rs104894031 |
Exac | rs104894031 |
Gnomad | rs104894031 |
Varsome | rs104894031 |
LitVar | rs104894031 |
Map | rs104894031 |
PheGenI | rs104894031 |
Biobank | rs104894031 |
1000 genomes | rs104894031 |
hgdp | rs104894031 |
ensembl | rs104894031 |
geneview | rs104894031 |
scholar | rs104894031 |
rs104894031 | |
pharmgkb | rs104894031 |
gwascentral | rs104894031 |
openSNP | rs104894031 |
23andMe | rs104894031 |
SNPshot | rs104894031 |
SNPdbe | rs104894031 |
MSV3d | rs104894031 |
GWAS Ctlg | rs104894031 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894031(A;A) |
Alt | rs104894031(A;A) |
Reference | Rs104894031(G;G) |
Significance | Pathogenic |
Disease | Tritanopia |
Variation | info |
Gene | OPN1SW |
CLNDBN | Tritanopia |
Reversed | 1 |
HGVS | NC_000007.13:g.128415610C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000079.2, |