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rs713

From SNPedia

Orientationplus
Stabilizedplus
Make rs713(A;A)
Make rs713(A;C)
Make rs713(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154152987
GeneOPN1LW
is asnp
is mentioned by
dbSNPrs713
ebirs713
HLIrs713
Exacrs713
Varsomers713
Maprs713
PheGenIrs713
hapmaprs713
1000 genomesrs713
hgdprs713
ensemblrs713
gopubmedrs713
geneviewrs713
scholarrs713
googlers713
pharmgkbrs713
gwascentralrs713
openSNPrs713
23andMers713
23andMe allrs713
SNP Nexus

SNPshotrs713
SNPdbers713
MSV3drs713
GWAS Ctlgrs713
Max Magnitude
Venter snp
Source plos
Gene OPN1LW
allele A
frequency
sift TOLERATED
HuRef 1103673116349
Disease Association Defects in OPN1LW are the cause of partial colorblindness protan series (CBP) (MIM:303900); also called protanopia.



GET Evidence
OPN1LW-L153M
aa_change Leu153Met
aa_change_short L153M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0120797
summary