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rs794727952

From SNPedia

Orientationplus
Make rs794727952(-;-)
Make rs794727952(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position8012167
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs794727952
ClinGenrs794727952
ebirs794727952
HLIrs794727952
Exacrs794727952
Varsomers794727952
Maprs794727952
PheGenIrs794727952
hapmaprs794727952
1000 genomesrs794727952
hgdprs794727952
ensemblrs794727952
gopubmedrs794727952
geneviewrs794727952
scholarrs794727952
googlers794727952
pharmgkbrs794727952
gwascentralrs794727952
openSNPrs794727952
23andMers794727952
23andMe allrs794727952
SNP Nexus

SNPshotrs794727952
SNPdbers794727952
MSV3drs794727952
GWAS Ctlgrs794727952
Max Magnitude
ClinVar
Risk
Alt
Reference Rs794727952(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 1 Cone-rod dystrophy 6
Variation info
Gene GUCY2D
CLNDBN Leber congenital amaurosis 1 Cone-rod dystrophy 6
Reversed 0
HGVS NC_000017.10:g.7915485delC
CLNSRC
CLNACC RCV000180468.1, RCV000180469.1,