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rs863225159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225159(A;A)
Make rs863225159(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37158258
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225159
dbSNP (classic)rs863225159
ClinGenrs863225159
ebirs863225159
HLIrs863225159
Exacrs863225159
Gnomadrs863225159
Varsomers863225159
LitVarrs863225159
Maprs863225159
PheGenIrs863225159
Biobankrs863225159
1000 genomesrs863225159
hgdprs863225159
ensemblrs863225159
geneviewrs863225159
scholarrs863225159
googlers863225159
pharmgkbrs863225159
gwascentralrs863225159
openSNPrs863225159
23andMers863225159
SNPshotrs863225159
SNPdbers863225159
MSV3drs863225159
GWAS Ctlgrs863225159
Max Magnitude0
ClinVar
Risk rs863225159(A;A)
Alt rs863225159(A;A)
Reference Rs863225159(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37158360C>T
CLNSRC
CLNACC RCV000201681.1,