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rs552184470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGCTT;CTGCTT) 0 common in clinvar
Make rs552184470(-;-)
Make rs552184470(-;CTGCTT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position8003171
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs552184470
dbSNP (classic)rs552184470
ClinGenrs552184470
ebirs552184470
HLIrs552184470
Exacrs552184470
Gnomadrs552184470
Varsomers552184470
LitVarrs552184470
Maprs552184470
PheGenIrs552184470
Biobankrs552184470
1000 genomesrs552184470
hgdprs552184470
ensemblrs552184470
geneviewrs552184470
scholarrs552184470
googlers552184470
pharmgkbrs552184470
gwascentralrs552184470
openSNPrs552184470
23andMers552184470
23andMe allrs552184470
SNPshotrs552184470
SNPdbers552184470
MSV3drs552184470
GWAS Ctlgrs552184470
Max Magnitude0
ClinVar
Risk rs552184470(-;-)
Alt rs552184470(-;-)
Reference Rs552184470(CTGCTT;CTGCTT)
Significance Probable-Pathogenic
Disease Leber congenital amaurosis 1 Abnormal electroretinogram Nystagmus not provided not specified
Variation info
Gene GUCY2D
CLNDBN Leber congenital amaurosis 1 Abnormal electroretinogram Nystagmus not provided not specified
Reversed 0
HGVS NC_000017.10:g.7906494_7906499delTCTGCT
CLNSRC
CLNACC RCV000401087.1, RCV000414862.1, RCV000415795.1, RCV000489672.1,