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rs1060499781

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1060499781(-;GG)
Make rs1060499781(GG;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position88058846
GeneCEP290
is asnp
is mentioned by
dbSNPrs1060499781
dbSNP (old)rs1060499781
ClinGenrs1060499781
ebirs1060499781
HLIrs1060499781
Exacrs1060499781
Gnomadrs1060499781
Varsomers1060499781
LitVarrs1060499781
Maprs1060499781
PheGenIrs1060499781
Biobankrs1060499781
1000 genomesrs1060499781
hgdprs1060499781
ensemblrs1060499781
gopubmedrs1060499781
geneviewrs1060499781
scholarrs1060499781
googlers1060499781
pharmgkbrs1060499781
gwascentralrs1060499781
openSNPrs1060499781
23andMers1060499781
23andMe allrs1060499781
SNPshotrs1060499781
SNPdbers1060499781
MSV3drs1060499781
GWAS Ctlgrs1060499781
Max Magnitude0
ClinVar
Risk rs1060499781(GG;GG)
Alt rs1060499781(GG;GG)
Reference Rs1060499781(-;-)
Significance Probable-Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88452623_88452624insCC
CLNSRC
CLNACC RCV000454358.1,