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rs863225160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225160(-;T)
Make rs863225160(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37244434
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225160
dbSNP (old)rs863225160
ClinGenrs863225160
ebirs863225160
HLIrs863225160
Exacrs863225160
Gnomadrs863225160
Varsomers863225160
Maprs863225160
PheGenIrs863225160
Biobankrs863225160
1000 genomesrs863225160
hgdprs863225160
ensemblrs863225160
gopubmedrs863225160
geneviewrs863225160
scholarrs863225160
googlers863225160
pharmgkbrs863225160
gwascentralrs863225160
openSNPrs863225160
23andMers863225160
23andMe allrs863225160
SNP Nexus

SNPshotrs863225160
SNPdbers863225160
MSV3drs863225160
GWAS Ctlgrs863225160
Max Magnitude0
ClinVar
Risk rs863225160(T;T)
Alt rs863225160(T;T)
Reference Rs863225160(-;-)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37244537dupA
CLNSRC
CLNACC RCV000201603.1,