Rs104894914

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red/green color vision
Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894914(C;C)
Make rs104894914(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154191716
GeneOPN1MW
is asnp
is mentioned by
dbSNPrs104894914
Exacrs104894914
PheGenIrs104894914
nextbiors104894914
hapmaprs104894914
1000 genomesrs104894914
hgdprs104894914
ensemblrs104894914
gopubmedrs104894914
geneviewrs104894914
scholarrs104894914
googlers104894914
pharmgkbrs104894914
gwascentralrs104894914
openSNPrs104894914
23andMers104894914
23andMe allrs104894914
SNP Nexus

SNPshotrs104894914
SNPdbers104894914
MSV3drs104894914
OMIM300821
Desc
Variant0001
Relatedalso

[PMID 11772996] middle European ancestry, suggesting a founder effect. fairly common (2%) in the population but apparently was not always expressed. omim

ClinVar
Risk rs104894914(C;C)
Alt rs104894914(C;C)
Reference rs104894914(T;T)
Significance Pathogenic
Disease Colorblindness Cone monochromatism
Variation info
Gene OPN1MW
CLNDBN Colorblindness, partial, deutan series Cone monochromatism
Reversed 0
HGVS NC_000023.10:g.153457207T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011254.6, RCV000011257.6,