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rs869025277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869025277(-;T)
Make rs869025277(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position3835081
GeneCEP104
is asnp
is mentioned by
dbSNPrs869025277
dbSNP (classic)rs869025277
ClinGenrs869025277
ebirs869025277
HLIrs869025277
Exacrs869025277
Gnomadrs869025277
Varsomers869025277
LitVarrs869025277
Maprs869025277
PheGenIrs869025277
Biobankrs869025277
1000 genomesrs869025277
hgdprs869025277
ensemblrs869025277
geneviewrs869025277
scholarrs869025277
googlers869025277
pharmgkbrs869025277
gwascentralrs869025277
openSNPrs869025277
23andMers869025277
SNPshotrs869025277
SNPdbers869025277
MSV3drs869025277
GWAS Ctlgrs869025277
Max Magnitude0
ClinVar
Risk rs869025277(T;T)
Alt rs869025277(T;T)
Reference Rs869025277(-;-)
Significance Pathogenic
Disease Joubert syndrome 25
Variation info
Gene CEP104
CLNDBN Joubert syndrome 25
Reversed 1
HGVS NC_000001.10:g.3751645_3751646insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000207071.1,