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rs863225173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225173(C;C)
Make rs863225173(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15563474
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs863225173
dbSNP (classic)rs863225173
ClinGenrs863225173
ebirs863225173
HLIrs863225173
Exacrs863225173
Gnomadrs863225173
Varsomers863225173
LitVarrs863225173
Maprs863225173
PheGenIrs863225173
Biobankrs863225173
1000 genomesrs863225173
hgdprs863225173
ensemblrs863225173
geneviewrs863225173
scholarrs863225173
googlers863225173
pharmgkbrs863225173
gwascentralrs863225173
openSNPrs863225173
23andMers863225173
SNPshotrs863225173
SNPdbers863225173
MSV3drs863225173
GWAS Ctlgrs863225173
Max Magnitude0
ClinVar
Risk rs863225173(C;C)
Alt rs863225173(C;C)
Reference Rs863225173(T;T)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15565097T>C
CLNSRC
CLNACC RCV000201741.1,