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rs1060499739

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499739(A;G)
Make rs1060499739(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position101757754
GeneCEP97
is asnp
is mentioned by
dbSNPrs1060499739
dbSNP (old)rs1060499739
ClinGenrs1060499739
ebirs1060499739
HLIrs1060499739
Exacrs1060499739
Gnomadrs1060499739
Varsomers1060499739
Maprs1060499739
PheGenIrs1060499739
Biobankrs1060499739
1000 genomesrs1060499739
hgdprs1060499739
ensemblrs1060499739
gopubmedrs1060499739
geneviewrs1060499739
scholarrs1060499739
googlers1060499739
pharmgkbrs1060499739
gwascentralrs1060499739
openSNPrs1060499739
23andMers1060499739
23andMe allrs1060499739
SNPshotrs1060499739
SNPdbers1060499739
MSV3drs1060499739
GWAS Ctlgrs1060499739
Max Magnitude0
ClinVar
Risk rs1060499739(G;G)
Alt rs1060499739(G;G)
Reference Rs1060499739(A;A)
Significance Probable-Pathogenic
Disease Global developmental delay Intellectual disability
Variation info
Gene CEP97
CLNDBN Global developmental delay Intellectual disability
Reversed 0
HGVS NC_000003.11:g.101476598A>G
CLNSRC
CLNACC RCV000454159.1,