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rs863225156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225156(-;-)
Make rs863225156(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37168834
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225156
dbSNP (classic)rs863225156
ClinGenrs863225156
ebirs863225156
HLIrs863225156
Exacrs863225156
Gnomadrs863225156
Varsomers863225156
LitVarrs863225156
Maprs863225156
PheGenIrs863225156
Biobankrs863225156
1000 genomesrs863225156
hgdprs863225156
ensemblrs863225156
geneviewrs863225156
scholarrs863225156
googlers863225156
pharmgkbrs863225156
gwascentralrs863225156
openSNPrs863225156
23andMers863225156
SNPshotrs863225156
SNPdbers863225156
MSV3drs863225156
GWAS Ctlgrs863225156
Max Magnitude0
ClinVar
Risk rs863225156(-;-)
Alt rs863225156(-;-)
Reference Rs863225156(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37168936delG
CLNSRC
CLNACC RCV000201582.1,