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rs863225194

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225194(C;C)
Make rs863225194(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position67095733
GeneCSPP1
is asnp
is mentioned by
dbSNPrs863225194
ebirs863225194
HLIrs863225194
Exacrs863225194
Varsomers863225194
Maprs863225194
PheGenIrs863225194
hapmaprs863225194
1000 genomesrs863225194
hgdprs863225194
ensemblrs863225194
gopubmedrs863225194
geneviewrs863225194
scholarrs863225194
googlers863225194
pharmgkbrs863225194
gwascentralrs863225194
openSNPrs863225194
23andMers863225194
23andMe allrs863225194
SNP Nexus

SNPshotrs863225194
SNPdbers863225194
MSV3drs863225194
GWAS Ctlgrs863225194
Max Magnitude0
ClinVar
Risk rs863225194(C;C)
Alt rs863225194(C;C)
Reference rs863225194(G;G)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68007968G>C
CLNSRC
CLNACC RCV000201587.1,