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rs797045437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGA;CAGA) 0 common in clinvar
Make rs797045437(-;-)
Make rs797045437(-;GACA)
Make rs797045437(GACA;GACA)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15597434
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs797045437
dbSNP (old)rs797045437
ClinGenrs797045437
ebirs797045437
HLIrs797045437
Exacrs797045437
Varsomers797045437
Maprs797045437
PheGenIrs797045437
Biobankrs797045437
1000 genomesrs797045437
hgdprs797045437
ensemblrs797045437
gopubmedrs797045437
geneviewrs797045437
scholarrs797045437
googlers797045437
pharmgkbrs797045437
gwascentralrs797045437
openSNPrs797045437
23andMers797045437
23andMe allrs797045437
SNP Nexus

SNPshotrs797045437
SNPdbers797045437
MSV3drs797045437
GWAS Ctlgrs797045437
Max Magnitude0
ClinVar
Risk rs797045437(-;-)
Alt rs797045437(-;-)
Reference Rs797045437(CAGA;CAGA)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15599057_15599060delGACA
CLNSRC
CLNACC RCV000193046.1,