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rs267606857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606857(C;C)
Make rs267606857(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8015404
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs267606857
ebirs267606857
HLIrs267606857
Exacrs267606857
Varsomers267606857
Maprs267606857
PheGenIrs267606857
hapmaprs267606857
1000 genomesrs267606857
hgdprs267606857
ensemblrs267606857
gopubmedrs267606857
geneviewrs267606857
scholarrs267606857
googlers267606857
pharmgkbrs267606857
gwascentralrs267606857
openSNPrs267606857
23andMers267606857
23andMe allrs267606857
SNP Nexus

SNPshotrs267606857
SNPdbers267606857
MSV3drs267606857
GWAS Ctlgrs267606857
Max Magnitude0
ClinVar
Risk rs267606857(C;C)
Alt rs267606857(C;C)
Reference rs267606857(T;T)
Significance Pathogenic
Disease Cone-rod dystrophy 6
Variation info
Gene GUCY2D
CLNDBN Cone-rod dystrophy 6
Reversed 0
HGVS NC_000017.10:g.7918722T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009953.2,