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rs151279194

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151279194(C;G)
Make rs151279194(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37142481
GeneC5orf42
is asnp
is mentioned by
dbSNPrs151279194
ebirs151279194
HLIrs151279194
Exacrs151279194
Varsomers151279194
Maprs151279194
PheGenIrs151279194
hapmaprs151279194
1000 genomesrs151279194
hgdprs151279194
ensemblrs151279194
gopubmedrs151279194
geneviewrs151279194
scholarrs151279194
googlers151279194
pharmgkbrs151279194
gwascentralrs151279194
openSNPrs151279194
23andMers151279194
23andMe allrs151279194
SNP Nexus

SNPshotrs151279194
SNPdbers151279194
MSV3drs151279194
GWAS Ctlgrs151279194
Max Magnitude0
ClinVar
Risk rs151279194(G;G)
Alt rs151279194(G;G)
Reference rs151279194(C;C)
Significance Probable-Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37142583C>G
CLNSRC
CLNACC RCV000178539.1,