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rs863225171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225171(-;TGGT)
Make rs863225171(TGGT;TGGT)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15574301
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs863225171
dbSNP (old)rs863225171
ClinGenrs863225171
ebirs863225171
HLIrs863225171
Exacrs863225171
Gnomadrs863225171
Varsomers863225171
Maprs863225171
PheGenIrs863225171
Biobankrs863225171
1000 genomesrs863225171
hgdprs863225171
ensemblrs863225171
gopubmedrs863225171
geneviewrs863225171
scholarrs863225171
googlers863225171
pharmgkbrs863225171
gwascentralrs863225171
openSNPrs863225171
23andMers863225171
23andMe allrs863225171
SNP Nexus

SNPshotrs863225171
SNPdbers863225171
MSV3drs863225171
GWAS Ctlgrs863225171
Max Magnitude0
ClinVar
Risk rs863225171(TGGT;TGGT)
Alt rs863225171(TGGT;TGGT)
Reference Rs863225171(-;-)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15575921_15575924dupTGGT
CLNSRC
CLNACC RCV000201593.1,