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rs763735590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs763735590(-;-)
Make rs763735590(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15580087
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs763735590
ClinGenrs763735590
ebirs763735590
HLIrs763735590
Exacrs763735590
Varsomers763735590
Maprs763735590
PheGenIrs763735590
hapmaprs763735590
1000 genomesrs763735590
hgdprs763735590
ensemblrs763735590
gopubmedrs763735590
geneviewrs763735590
scholarrs763735590
googlers763735590
pharmgkbrs763735590
gwascentralrs763735590
openSNPrs763735590
23andMers763735590
23andMe allrs763735590
SNP Nexus

SNPshotrs763735590
SNPdbers763735590
MSV3drs763735590
GWAS Ctlgrs763735590
Max Magnitude0
ClinVar
Risk rs763735590(-;-)
Alt rs763735590(-;-)
Reference Rs763735590(TG;TG)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15581710_15581711delTG
CLNSRC
CLNACC RCV000201723.1,