rs267606927
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267606927(C;C) |
Make rs267606927(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154190173 |
Gene | OPN1MW |
is a | snp |
is | mentioned by |
dbSNP | rs267606927 |
dbSNP (classic) | rs267606927 |
ClinGen | rs267606927 |
ebi | rs267606927 |
HLI | rs267606927 |
Exac | rs267606927 |
Gnomad | rs267606927 |
Varsome | rs267606927 |
LitVar | rs267606927 |
Map | rs267606927 |
PheGenI | rs267606927 |
Biobank | rs267606927 |
1000 genomes | rs267606927 |
hgdp | rs267606927 |
ensembl | rs267606927 |
geneview | rs267606927 |
scholar | rs267606927 |
rs267606927 | |
pharmgkb | rs267606927 |
gwascentral | rs267606927 |
openSNP | rs267606927 |
23andMe | rs267606927 |
SNPshot | rs267606927 |
SNPdbe | rs267606927 |
MSV3d | rs267606927 |
GWAS Ctlg | rs267606927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606927(C;C) |
Alt | rs267606927(C;C) |
Reference | Rs267606927(T;T) |
Significance | Pathogenic |
Disease | Cone dystrophy 5 |
Variation | info |
Gene | OPN1MW |
CLNDBN | Cone dystrophy 5, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.153455662T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011259.7, |