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rs773362418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs773362418(A;A)
Make rs773362418(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37206347
GeneC5orf42
is asnp
is mentioned by
dbSNPrs773362418
dbSNP (classic)rs773362418
ClinGenrs773362418
ebirs773362418
HLIrs773362418
Exacrs773362418
Gnomadrs773362418
Varsomers773362418
LitVarrs773362418
Maprs773362418
PheGenIrs773362418
Biobankrs773362418
1000 genomesrs773362418
hgdprs773362418
ensemblrs773362418
geneviewrs773362418
scholarrs773362418
googlers773362418
pharmgkbrs773362418
gwascentralrs773362418
openSNPrs773362418
23andMers773362418
SNPshotrs773362418
SNPdbers773362418
MSV3drs773362418
GWAS Ctlgrs773362418
Max Magnitude0
ClinVar
Risk rs773362418(A;A)
Alt rs773362418(A;A)
Reference Rs773362418(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37206449C>A
CLNSRC
CLNACC RCV000201737.1,