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rs863225158

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225158(C;T)
Make rs863225158(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37226320
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225158
ebirs863225158
HLIrs863225158
Exacrs863225158
Varsomers863225158
Maprs863225158
PheGenIrs863225158
hapmaprs863225158
1000 genomesrs863225158
hgdprs863225158
ensemblrs863225158
gopubmedrs863225158
geneviewrs863225158
scholarrs863225158
googlers863225158
pharmgkbrs863225158
gwascentralrs863225158
openSNPrs863225158
23andMers863225158
23andMe allrs863225158
SNP Nexus

SNPshotrs863225158
SNPdbers863225158
MSV3drs863225158
GWAS Ctlgrs863225158
Max Magnitude0
ClinVar
Risk rs863225158(T;T)
Alt rs863225158(T;T)
Reference rs863225158(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37226422G>A
CLNSRC
CLNACC RCV000201623.1,