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rs587777488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777488(G;T)
Make rs587777488(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position94333529
GeneCEP83
is asnp
is mentioned by
dbSNPrs587777488
dbSNP (classic)rs587777488
ClinGenrs587777488
ebirs587777488
HLIrs587777488
Exacrs587777488
Gnomadrs587777488
Varsomers587777488
LitVarrs587777488
Maprs587777488
PheGenIrs587777488
Biobankrs587777488
1000 genomesrs587777488
hgdprs587777488
ensemblrs587777488
geneviewrs587777488
scholarrs587777488
googlers587777488
pharmgkbrs587777488
gwascentralrs587777488
openSNPrs587777488
23andMers587777488
SNPshotrs587777488
SNPdbers587777488
MSV3drs587777488
GWAS Ctlgrs587777488
Max Magnitude0
ClinVar
Risk rs587777488(T;T)
Alt rs587777488(T;T)
Reference Rs587777488(G;G)
Significance Pathogenic
Disease Nephronophthisis 18
Variation info
Gene CEP83 CCDC41
CLNDBN Nephronophthisis 18
Reversed 0
HGVS NC_000012.11:g.94727305G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128445.3,