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rs863225152

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225152(C;T)
Make rs863225152(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37153784
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225152
ebirs863225152
HLIrs863225152
Exacrs863225152
Varsomers863225152
Maprs863225152
PheGenIrs863225152
hapmaprs863225152
1000 genomesrs863225152
hgdprs863225152
ensemblrs863225152
gopubmedrs863225152
geneviewrs863225152
scholarrs863225152
googlers863225152
pharmgkbrs863225152
gwascentralrs863225152
openSNPrs863225152
23andMers863225152
23andMe allrs863225152
SNP Nexus

SNPshotrs863225152
SNPdbers863225152
MSV3drs863225152
GWAS Ctlgrs863225152
Max Magnitude0
ClinVar
Risk rs863225152(T;T)
Alt rs863225152(T;T)
Reference rs863225152(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37153886G>A
CLNSRC
CLNACC RCV000201646.1,