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rs863225193

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225193(G;T)
Make rs863225193(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position67118822
GeneCSPP1
is asnp
is mentioned by
dbSNPrs863225193
ebirs863225193
HLIrs863225193
Exacrs863225193
Varsomers863225193
Maprs863225193
PheGenIrs863225193
hapmaprs863225193
1000 genomesrs863225193
hgdprs863225193
ensemblrs863225193
gopubmedrs863225193
geneviewrs863225193
scholarrs863225193
googlers863225193
pharmgkbrs863225193
gwascentralrs863225193
openSNPrs863225193
23andMers863225193
23andMe allrs863225193
SNP Nexus

SNPshotrs863225193
SNPdbers863225193
MSV3drs863225193
GWAS Ctlgrs863225193
Max Magnitude0
ClinVar
Risk rs863225193(T;T)
Alt rs863225193(T;T)
Reference rs863225193(G;G)
Significance Pathogenic
Disease Joubert syndrome 21
Variation info
Gene CSPP1
CLNDBN Joubert syndrome 21
Reversed 0
HGVS NC_000008.10:g.68031057G>T
CLNSRC
CLNACC RCV000201750.1,