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rs8069344

From SNPedia

Orientationplus
Stabilizedplus
Make rs8069344(A;A)
Make rs8069344(A;T)
Make rs8069344(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8013961
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs8069344
ebirs8069344
HLIrs8069344
Exacrs8069344
Varsomers8069344
Maprs8069344
PheGenIrs8069344
hapmaprs8069344
1000 genomesrs8069344
hgdprs8069344
ensemblrs8069344
gopubmedrs8069344
geneviewrs8069344
scholarrs8069344
googlers8069344
pharmgkbrs8069344
gwascentralrs8069344
openSNPrs8069344
23andMers8069344
23andMe allrs8069344
SNP Nexus

SNPshotrs8069344
SNPdbers8069344
MSV3drs8069344
GWAS Ctlgrs8069344
GMAF0.1552
Max Magnitude
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene GUCY2D
allele A
frequency 0.133
sift TOLERATED
HuRef 1103645274016
Disease Association Defects in GUCY2D are a cause of dominant cone-rod dystrophy type 6 (CORD6) (MIM:601777). It is characterized by the initial degeneration of cone photoreceptor cells, causing early loss of visual acuity and color vision, followed by the degeneration of rod photoreceptor cells leading to progressive night blindness and peripheral visual field loss. The disease displays phenotypic heterogeneity and different gene locis are involved.



Neighborrs28933695
Distance738
[PMID 18936139OA-icon.png] Mutation survey of known LCA genes and loci in the Saudi Arabian population.


GET Evidence
GUCY2D-L782H
aa_change Leu782His
aa_change_short L782H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.215839
summary