rs104894915
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894915(A;A) |
Make rs104894915(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154187939 |
Gene | OPN1MW |
is a | snp |
is | mentioned by |
dbSNP | rs104894915 |
dbSNP (classic) | rs104894915 |
ClinGen | rs104894915 |
ebi | rs104894915 |
HLI | rs104894915 |
Exac | rs104894915 |
Gnomad | rs104894915 |
Varsome | rs104894915 |
LitVar | rs104894915 |
Map | rs104894915 |
PheGenI | rs104894915 |
Biobank | rs104894915 |
1000 genomes | rs104894915 |
hgdp | rs104894915 |
ensembl | rs104894915 |
geneview | rs104894915 |
scholar | rs104894915 |
rs104894915 | |
pharmgkb | rs104894915 |
gwascentral | rs104894915 |
openSNP | rs104894915 |
23andMe | rs104894915 |
SNPshot | rs104894915 |
SNPdbe | rs104894915 |
MSV3d | rs104894915 |
GWAS Ctlg | rs104894915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894915(A;A) |
Alt | rs104894915(A;A) |
Reference | Rs104894915(C;C) |
Significance | Pathogenic |
Disease | Colorblindness |
Variation | info |
Gene | OPN1MW |
CLNDBN | Colorblindness, partial, deutan series |
Reversed | 0 |
HGVS | NC_000023.10:g.153453428C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011258.8, |