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rs863225162

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225162(G;T)
Make rs863225162(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37206339
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225162
ebirs863225162
HLIrs863225162
Exacrs863225162
Varsomers863225162
Maprs863225162
PheGenIrs863225162
hapmaprs863225162
1000 genomesrs863225162
hgdprs863225162
ensemblrs863225162
gopubmedrs863225162
geneviewrs863225162
scholarrs863225162
googlers863225162
pharmgkbrs863225162
gwascentralrs863225162
openSNPrs863225162
23andMers863225162
23andMe allrs863225162
SNP Nexus

SNPshotrs863225162
SNPdbers863225162
MSV3drs863225162
GWAS Ctlgrs863225162
Max Magnitude0
ClinVar
Risk rs863225162(T;T)
Alt rs863225162(T;T)
Reference rs863225162(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37206441C>A
CLNSRC
CLNACC RCV000201644.1,