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rs794729226

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs794729226(-;-)
Make rs794729226(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15599627
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs794729226
ebirs794729226
HLIrs794729226
Exacrs794729226
Varsomers794729226
Maprs794729226
PheGenIrs794729226
hapmaprs794729226
1000 genomesrs794729226
hgdprs794729226
ensemblrs794729226
gopubmedrs794729226
geneviewrs794729226
scholarrs794729226
googlers794729226
pharmgkbrs794729226
gwascentralrs794729226
openSNPrs794729226
23andMers794729226
23andMe allrs794729226
SNP Nexus

SNPshotrs794729226
SNPdbers794729226
MSV3drs794729226
GWAS Ctlgrs794729226
Max Magnitude0
ClinVar
Risk rs794729226(;)
Alt rs794729226(;)
Reference rs794729226(CT;CT)
Significance Probable-Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15601250_15601251delCT
CLNSRC
CLNACC RCV000184047.1,