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rs863225166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225166(C;T)
Make rs863225166(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37206423
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225166
dbSNP (classic)rs863225166
ClinGenrs863225166
ebirs863225166
HLIrs863225166
Exacrs863225166
Gnomadrs863225166
Varsomers863225166
LitVarrs863225166
Maprs863225166
PheGenIrs863225166
Biobankrs863225166
1000 genomesrs863225166
hgdprs863225166
ensemblrs863225166
geneviewrs863225166
scholarrs863225166
googlers863225166
pharmgkbrs863225166
gwascentralrs863225166
openSNPrs863225166
23andMers863225166
SNPshotrs863225166
SNPdbers863225166
MSV3drs863225166
GWAS Ctlgrs863225166
Max Magnitude0
ClinVar
Risk rs863225166(G;G) rs863225166(T;T)
Alt rs863225166(G;G) rs863225166(T;T)
Reference Rs863225166(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37206525G>A
CLNSRC
CLNACC RCV000201687.1,