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rs863225163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225163(C;T)
Make rs863225163(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37224679
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225163
dbSNP (classic)rs863225163
ClinGenrs863225163
ebirs863225163
HLIrs863225163
Exacrs863225163
Gnomadrs863225163
Varsomers863225163
LitVarrs863225163
Maprs863225163
PheGenIrs863225163
Biobankrs863225163
1000 genomesrs863225163
hgdprs863225163
ensemblrs863225163
geneviewrs863225163
scholarrs863225163
googlers863225163
pharmgkbrs863225163
gwascentralrs863225163
openSNPrs863225163
23andMers863225163
SNPshotrs863225163
SNPdbers863225163
MSV3drs863225163
GWAS Ctlgrs863225163
Max Magnitude0
ClinVar
Risk rs863225163(T;T)
Alt rs863225163(T;T)
Reference Rs863225163(C;C)
Significance Pathogenic
Disease Joubert syndrome 17 not provided
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17 not provided
Reversed 1
HGVS NC_000005.9:g.37224781G>A
CLNSRC
CLNACC RCV000201655.1, RCV000362856.1,