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rs863225165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225165(A;A)
Make rs863225165(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37213648
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225165
dbSNP (classic)rs863225165
ClinGenrs863225165
ebirs863225165
HLIrs863225165
Exacrs863225165
Gnomadrs863225165
Varsomers863225165
LitVarrs863225165
Maprs863225165
PheGenIrs863225165
Biobankrs863225165
1000 genomesrs863225165
hgdprs863225165
ensemblrs863225165
geneviewrs863225165
scholarrs863225165
googlers863225165
pharmgkbrs863225165
gwascentralrs863225165
openSNPrs863225165
23andMers863225165
SNPshotrs863225165
SNPdbers863225165
MSV3drs863225165
GWAS Ctlgrs863225165
Max Magnitude0
ClinVar
Risk rs863225165(A;A)
Alt rs863225165(A;A)
Reference Rs863225165(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37213750C>T
CLNSRC
CLNACC RCV000201577.1,