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rs28933695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28933695(C;C)
Make rs28933695(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8014699
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs28933695
ebirs28933695
HLIrs28933695
Exacrs28933695
Varsomers28933695
Maprs28933695
PheGenIrs28933695
hapmaprs28933695
1000 genomesrs28933695
hgdprs28933695
ensemblrs28933695
gopubmedrs28933695
geneviewrs28933695
scholarrs28933695
googlers28933695
pharmgkbrs28933695
gwascentralrs28933695
openSNPrs28933695
23andMers28933695
23andMe allrs28933695
SNP Nexus

SNPshotrs28933695
SNPdbers28933695
MSV3drs28933695
GWAS Ctlgrs28933695
Max Magnitude0
OMIM600179
DescCONE-ROD DYSTROPHY 6
Variant0005
Relatedalso
Neighborrs8069344
Distance738


ClinVar
Risk rs28933695(C;C)
Alt rs28933695(C;C)
Reference rs28933695(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy 6 not provided
Variation info
Gene GUCY2D
CLNDBN Cone-rod dystrophy 6 not provided
Reversed 0
HGVS NC_000017.10:g.7918017G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009948.4, RCV000009950.2, RCV000084860.1,