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rs104894031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894031(A;A)
Make rs104894031(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position128775556
GeneOPN1SW
is asnp
is mentioned by
dbSNPrs104894031
dbSNP (classic)rs104894031
ClinGenrs104894031
ebirs104894031
HLIrs104894031
Exacrs104894031
Gnomadrs104894031
Varsomers104894031
LitVarrs104894031
Maprs104894031
PheGenIrs104894031
Biobankrs104894031
1000 genomesrs104894031
hgdprs104894031
ensemblrs104894031
geneviewrs104894031
scholarrs104894031
googlers104894031
pharmgkbrs104894031
gwascentralrs104894031
openSNPrs104894031
23andMers104894031
SNPshotrs104894031
SNPdbers104894031
MSV3drs104894031
GWAS Ctlgrs104894031
GMAF0.0009183
Max Magnitude0
OMIM613522
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894031(A;A)
Alt rs104894031(A;A)
Reference Rs104894031(G;G)
Significance Pathogenic
Disease Tritanopia
Variation info
Gene OPN1SW
CLNDBN Tritanopia
Reversed 1
HGVS NC_000007.13:g.128415610C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000079.2,