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rs863225167

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225167(A;C)
Make rs863225167(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37239730
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225167
ebirs863225167
HLIrs863225167
Exacrs863225167
Varsomers863225167
Maprs863225167
PheGenIrs863225167
hapmaprs863225167
1000 genomesrs863225167
hgdprs863225167
ensemblrs863225167
gopubmedrs863225167
geneviewrs863225167
scholarrs863225167
googlers863225167
pharmgkbrs863225167
gwascentralrs863225167
openSNPrs863225167
23andMers863225167
23andMe allrs863225167
SNP Nexus

SNPshotrs863225167
SNPdbers863225167
MSV3drs863225167
GWAS Ctlgrs863225167
Max Magnitude0
ClinVar
Risk rs863225167(C;C)
Alt rs863225167(C;C)
Reference rs863225167(A;A)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37239832T>G
CLNSRC
CLNACC RCV000201759.1,