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rs147416429

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147416429(A;A)
Make rs147416429(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37153973
GeneC5orf42
is asnp
is mentioned by
dbSNPrs147416429
ebirs147416429
HLIrs147416429
Exacrs147416429
Varsomers147416429
Maprs147416429
PheGenIrs147416429
hapmaprs147416429
1000 genomesrs147416429
hgdprs147416429
ensemblrs147416429
gopubmedrs147416429
geneviewrs147416429
scholarrs147416429
googlers147416429
pharmgkbrs147416429
gwascentralrs147416429
openSNPrs147416429
23andMers147416429
23andMe allrs147416429
SNP Nexus

SNPshotrs147416429
SNPdbers147416429
MSV3drs147416429
GWAS Ctlgrs147416429
Max Magnitude0
ClinVar
Risk rs147416429(A;A)
Alt rs147416429(A;A)
Reference rs147416429(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37154075G>A
CLNSRC
CLNACC RCV000201628.1,