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rs863225191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225191(-;AGAAGAA)
Make rs863225191(AGAAGAA;AGAAGAA)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position67159068
GeneCSPP1
is asnp
is mentioned by
dbSNPrs863225191
ClinGenrs863225191
ebirs863225191
HLIrs863225191
Exacrs863225191
Varsomers863225191
Maprs863225191
PheGenIrs863225191
hapmaprs863225191
1000 genomesrs863225191
hgdprs863225191
ensemblrs863225191
gopubmedrs863225191
geneviewrs863225191
scholarrs863225191
googlers863225191
pharmgkbrs863225191
gwascentralrs863225191
openSNPrs863225191
23andMers863225191
23andMe allrs863225191
SNP Nexus

SNPshotrs863225191
SNPdbers863225191
MSV3drs863225191
GWAS Ctlgrs863225191
Max Magnitude0
ClinVar
Risk rs863225191(AAGAAAG;AAGAAAG)
Alt rs863225191(AAGAAAG;AAGAAAG)
Reference Rs863225191(-;-)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68071297_68071303dupAGAAGAA
CLNSRC
CLNACC RCV000201734.1,