Have questions? Visit https://www.reddit.com/r/SNPedia

rs267606927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606927(C;C)
Make rs267606927(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154190173
GeneOPN1MW
is asnp
is mentioned by
dbSNPrs267606927
dbSNP (classic)rs267606927
ClinGenrs267606927
ebirs267606927
HLIrs267606927
Exacrs267606927
Gnomadrs267606927
Varsomers267606927
LitVarrs267606927
Maprs267606927
PheGenIrs267606927
Biobankrs267606927
1000 genomesrs267606927
hgdprs267606927
ensemblrs267606927
geneviewrs267606927
scholarrs267606927
googlers267606927
pharmgkbrs267606927
gwascentralrs267606927
openSNPrs267606927
23andMers267606927
SNPshotrs267606927
SNPdbers267606927
MSV3drs267606927
GWAS Ctlgrs267606927
Max Magnitude0
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,