Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727691

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727691(-;-)
Make rs794727691(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37121717
GeneC5orf42
is asnp
is mentioned by
dbSNPrs794727691
ebirs794727691
HLIrs794727691
Exacrs794727691
Varsomers794727691
Maprs794727691
PheGenIrs794727691
hapmaprs794727691
1000 genomesrs794727691
hgdprs794727691
ensemblrs794727691
gopubmedrs794727691
geneviewrs794727691
scholarrs794727691
googlers794727691
pharmgkbrs794727691
gwascentralrs794727691
openSNPrs794727691
23andMers794727691
23andMe allrs794727691
SNP Nexus

SNPshotrs794727691
SNPdbers794727691
MSV3drs794727691
GWAS Ctlgrs794727691
Max Magnitude0
ClinVar
Risk rs794727691(;)
Alt rs794727691(;)
Reference rs794727691(T;T)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37121819delA
CLNSRC
CLNACC RCV000178670.1,