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rs104894032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894032(C;C)
Make rs104894032(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position128774545
GeneOPN1SW
is asnp
is mentioned by
dbSNPrs104894032
dbSNP (classic)rs104894032
ClinGenrs104894032
ebirs104894032
HLIrs104894032
Exacrs104894032
Gnomadrs104894032
Varsomers104894032
LitVarrs104894032
Maprs104894032
PheGenIrs104894032
Biobankrs104894032
1000 genomesrs104894032
hgdprs104894032
ensemblrs104894032
geneviewrs104894032
scholarrs104894032
googlers104894032
pharmgkbrs104894032
gwascentralrs104894032
openSNPrs104894032
23andMers104894032
SNPshotrs104894032
SNPdbers104894032
MSV3drs104894032
GWAS Ctlgrs104894032
Max Magnitude0
OMIM613522
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894032(C;C) rs104894032(G;G)
Alt rs104894032(C;C) rs104894032(G;G)
Reference Rs104894032(T;T)
Significance Pathogenic
Disease Tritanopia
Variation info
Gene OPN1SW
CLNDBN Tritanopia
Reversed 1
HGVS NC_000007.13:g.128414599A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000080.2,