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rs386834239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834239(-;-)
Make rs386834239(-;ACCA)
Make rs386834239(ACCA;ACCA)
ReferenceGRCh38 38.1/141
Chromosome17
Position8016454
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs386834239
ebirs386834239
HLIrs386834239
Exacrs386834239
Varsomers386834239
Maprs386834239
PheGenIrs386834239
hapmaprs386834239
1000 genomesrs386834239
hgdprs386834239
ensemblrs386834239
gopubmedrs386834239
geneviewrs386834239
scholarrs386834239
googlers386834239
pharmgkbrs386834239
gwascentralrs386834239
openSNPrs386834239
23andMers386834239
23andMe allrs386834239
SNP Nexus

SNPshotrs386834239
SNPdbers386834239
MSV3drs386834239
GWAS Ctlgrs386834239
Max Magnitude0
ClinVar
Risk rs386834239(CAAC;CAAC)
Alt rs386834239(CAAC;CAAC)
Reference rs386834239(;)
Significance Pathogenic
Disease Leber congenital amaurosis 1
Variation info
Gene GUCY2D
CLNDBN Leber congenital amaurosis 1
Reversed 0
HGVS NC_000017.10:g.7919769_7919772dupACCA
CLNSRC ClinVar GeneReviews
CLNACC RCV000055776.1,