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rs779680371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs779680371(-;-)
Make rs779680371(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37244435
GeneC5orf42
is asnp
is mentioned by
dbSNPrs779680371
ClinGenrs779680371
ebirs779680371
HLIrs779680371
Exacrs779680371
Varsomers779680371
Maprs779680371
PheGenIrs779680371
hapmaprs779680371
1000 genomesrs779680371
hgdprs779680371
ensemblrs779680371
gopubmedrs779680371
geneviewrs779680371
scholarrs779680371
googlers779680371
pharmgkbrs779680371
gwascentralrs779680371
openSNPrs779680371
23andMers779680371
23andMe allrs779680371
SNP Nexus

SNPshotrs779680371
SNPdbers779680371
MSV3drs779680371
GWAS Ctlgrs779680371
Max Magnitude0
ClinVar
Risk rs779680371(-;-)
Alt rs779680371(-;-)
Reference Rs779680371(A;A)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37244537delA
CLNSRC
CLNACC RCV000201554.1,