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rs587777487

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777487(C;G)
Make rs587777487(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position94333527
GeneCEP83
is asnp
is mentioned by
dbSNPrs587777487
ebirs587777487
HLIrs587777487
Exacrs587777487
Varsomers587777487
Maprs587777487
PheGenIrs587777487
hapmaprs587777487
1000 genomesrs587777487
hgdprs587777487
ensemblrs587777487
gopubmedrs587777487
geneviewrs587777487
scholarrs587777487
googlers587777487
pharmgkbrs587777487
gwascentralrs587777487
openSNPrs587777487
23andMers587777487
23andMe allrs587777487
SNP Nexus

SNPshotrs587777487
SNPdbers587777487
MSV3drs587777487
GWAS Ctlgrs587777487
Max Magnitude0
ClinVar
Risk rs587777487(G;G)
Alt rs587777487(G;G)
Reference rs587777487(C;C)
Significance Pathogenic
Disease Nephronophthisis 18
Variation info
Gene CEP83 CCDC41
CLNDBN Nephronophthisis 18
Reversed 0
HGVS NC_000012.11:g.94727303C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128443.3,