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rs878853342

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853342(A;T)
Make rs878853342(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position8016241
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs878853342
dbSNP (classic)rs878853342
ClinGenrs878853342
ebirs878853342
HLIrs878853342
Exacrs878853342
Gnomadrs878853342
Varsomers878853342
LitVarrs878853342
Maprs878853342
PheGenIrs878853342
Biobankrs878853342
1000 genomesrs878853342
hgdprs878853342
ensemblrs878853342
geneviewrs878853342
scholarrs878853342
googlers878853342
pharmgkbrs878853342
gwascentralrs878853342
openSNPrs878853342
23andMers878853342
SNPshotrs878853342
SNPdbers878853342
MSV3drs878853342
GWAS Ctlgrs878853342
Max Magnitude0
ClinVar
Risk rs878853342(G;G) rs878853342(T;T)
Alt rs878853342(G;G) rs878853342(T;T)
Reference Rs878853342(A;A)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene GUCY2D
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000017.10:g.7919559A>T
CLNSRC
CLNACC RCV000225447.1,