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rs28935199

From SNPedia

Merged intors104894916
Orientationplus
Stabilizedplus
Make rs28935199(A;A)
Make rs28935199(A;G)
Make rs28935199(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154195934
GeneOPN1MW
is asnp
is mentioned by
dbSNPrs28935199
dbSNP (classic)rs28935199
ClinGenrs28935199
ebirs28935199
HLIrs28935199
Exacrs28935199
Gnomadrs28935199
Varsomers28935199
LitVarrs28935199
Maprs28935199
PheGenIrs28935199
Biobankrs28935199
1000 genomesrs28935199
hgdprs28935199
ensemblrs28935199
geneviewrs28935199
scholarrs28935199
googlers28935199
pharmgkbrs28935199
gwascentralrs28935199
openSNPrs28935199
23andMers28935199
SNPshotrs28935199
SNPdbers28935199
MSV3drs28935199
GWAS Ctlgrs28935199
StatusMerged into rs104894916
Max Magnitude0

Colorblindness is typically caused by rearrangements in the region of the X chromosome harboring the green and red opsin genes. In a small number of cases, SNPs in opsin genes can also lead to colorblindness. rs28935199 is an example of such a SNP. One Japanese male homozygous for the rs28935199 (A) allele, which causes a change from an arginine to a glutamine in the green opsin protein at position 330, has been observed to be colorblind. [PMID 12051694].

OMIM303800
DescCOLORBLINDNESS, DEUTAN
Variant0004
Relatedalso