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rs121434585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434585(C;T)
Make rs121434585(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position109610108
GeneGNAT2
is asnp
is mentioned by
dbSNPrs121434585
ebirs121434585
HLIrs121434585
Exacrs121434585
Varsomers121434585
Maprs121434585
PheGenIrs121434585
hapmaprs121434585
1000 genomesrs121434585
hgdprs121434585
ensemblrs121434585
gopubmedrs121434585
geneviewrs121434585
scholarrs121434585
googlers121434585
pharmgkbrs121434585
gwascentralrs121434585
openSNPrs121434585
23andMers121434585
23andMe allrs121434585
SNP Nexus

SNPshotrs121434585
SNPdbers121434585
MSV3drs121434585
GWAS Ctlgrs121434585
Max Magnitude0
OMIM139340
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434585(T;T)
Alt rs121434585(T;T)
Reference rs121434585(C;C)
Significance Pathogenic
Disease Achromatopsia 4
Variation info
Gene GNAT2
CLNDBN Achromatopsia 4
Reversed 1
HGVS NC_000001.10:g.110152730G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017273.23,