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rs863225161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225161(-;A)
Make rs863225161(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37206215
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225161
ClinGenrs863225161
ebirs863225161
HLIrs863225161
Exacrs863225161
Varsomers863225161
Maprs863225161
PheGenIrs863225161
hapmaprs863225161
1000 genomesrs863225161
hgdprs863225161
ensemblrs863225161
gopubmedrs863225161
geneviewrs863225161
scholarrs863225161
googlers863225161
pharmgkbrs863225161
gwascentralrs863225161
openSNPrs863225161
23andMers863225161
23andMe allrs863225161
SNP Nexus

SNPshotrs863225161
SNPdbers863225161
MSV3drs863225161
GWAS Ctlgrs863225161
Max Magnitude0
ClinVar
Risk rs863225161(A;A)
Alt rs863225161(A;A)
Reference Rs863225161(-;-)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37206317_37206318insT
CLNSRC
CLNACC RCV000201725.1,