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rs794729225

From SNPedia

Orientationplus
Geno Mag Summary
(GAA;GAA) 0 common in clinvar
Make rs794729225(-;-)
Make rs794729225(-;GAA)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15587843
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs794729225
ebirs794729225
HLIrs794729225
Exacrs794729225
Varsomers794729225
Maprs794729225
PheGenIrs794729225
hapmaprs794729225
1000 genomesrs794729225
hgdprs794729225
ensemblrs794729225
gopubmedrs794729225
geneviewrs794729225
scholarrs794729225
googlers794729225
pharmgkbrs794729225
gwascentralrs794729225
openSNPrs794729225
23andMers794729225
23andMe allrs794729225
SNP Nexus

SNPshotrs794729225
SNPdbers794729225
MSV3drs794729225
GWAS Ctlgrs794729225
Max Magnitude0
ClinVar
Risk rs794729225(;)
Alt rs794729225(;)
Reference rs794729225(GAA;GAA)
Significance Probable-Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15589466_15589468delGAA
CLNSRC
CLNACC RCV000184047.1,