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rs863225195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGAAAG;AAGAAAG) 0 common in clinvar
Make rs863225195(-;-)
Make rs863225195(-;AGAAGAA)
Make rs863225195(AGAAGAA;AGAAGAA)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position67159062
GeneCSPP1
is asnp
is mentioned by
dbSNPrs863225195
dbSNP (old)rs863225195
ClinGenrs863225195
ebirs863225195
HLIrs863225195
Exacrs863225195
Gnomadrs863225195
Varsomers863225195
Maprs863225195
PheGenIrs863225195
Biobankrs863225195
1000 genomesrs863225195
hgdprs863225195
ensemblrs863225195
gopubmedrs863225195
geneviewrs863225195
scholarrs863225195
googlers863225195
pharmgkbrs863225195
gwascentralrs863225195
openSNPrs863225195
23andMers863225195
23andMe allrs863225195
SNP Nexus

SNPshotrs863225195
SNPdbers863225195
MSV3drs863225195
GWAS Ctlgrs863225195
Max Magnitude0
ClinVar
Risk rs863225195(-;-)
Alt rs863225195(-;-)
Reference Rs863225195(AAGAAAG;AAGAAAG)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68071297_68071303delAGAAGAA
CLNSRC
CLNACC RCV000201764.1,