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rs770758833

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770758833(-;-)
Make rs770758833(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37125315
GeneC5orf42
is asnp
is mentioned by
dbSNPrs770758833
dbSNP (old)rs770758833
ClinGenrs770758833
ebirs770758833
HLIrs770758833
Exacrs770758833
Gnomadrs770758833
Varsomers770758833
Maprs770758833
PheGenIrs770758833
Biobankrs770758833
1000 genomesrs770758833
hgdprs770758833
ensemblrs770758833
gopubmedrs770758833
geneviewrs770758833
scholarrs770758833
googlers770758833
pharmgkbrs770758833
gwascentralrs770758833
openSNPrs770758833
23andMers770758833
23andMe allrs770758833
SNP Nexus

SNPshotrs770758833
SNPdbers770758833
MSV3drs770758833
GWAS Ctlgrs770758833
Max Magnitude0
ClinVar
Risk rs770758833(-;-)
Alt rs770758833(-;-)
Reference Rs770758833(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37125417delC
CLNSRC
CLNACC RCV000201559.1,