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rs754221308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs754221308(C;C)
Make rs754221308(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15536988
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs754221308
dbSNP (classic)rs754221308
ClinGenrs754221308
ebirs754221308
HLIrs754221308
Exacrs754221308
Gnomadrs754221308
Varsomers754221308
LitVarrs754221308
Maprs754221308
PheGenIrs754221308
Biobankrs754221308
1000 genomesrs754221308
hgdprs754221308
ensemblrs754221308
geneviewrs754221308
scholarrs754221308
googlers754221308
pharmgkbrs754221308
gwascentralrs754221308
openSNPrs754221308
23andMers754221308
SNPshotrs754221308
SNPdbers754221308
MSV3drs754221308
GWAS Ctlgrs754221308
Max Magnitude0
ClinVar
Risk rs754221308(C;C)
Alt rs754221308(C;C)
Reference Rs754221308(T;T)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15538611T>C
CLNSRC
CLNACC RCV000201529.1,