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rs794729195

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729195(-;-)
Make rs794729195(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135455873
GeneAHI1
is asnp
is mentioned by
dbSNPrs794729195
ebirs794729195
HLIrs794729195
Exacrs794729195
Varsomers794729195
Maprs794729195
PheGenIrs794729195
hapmaprs794729195
1000 genomesrs794729195
hgdprs794729195
ensemblrs794729195
gopubmedrs794729195
geneviewrs794729195
scholarrs794729195
googlers794729195
pharmgkbrs794729195
gwascentralrs794729195
openSNPrs794729195
23andMers794729195
23andMe allrs794729195
SNP Nexus

SNPshotrs794729195
SNPdbers794729195
MSV3drs794729195
GWAS Ctlgrs794729195
Max Magnitude0
ClinVar
Risk rs794729195(;)
Alt rs794729195(;)
Reference rs794729195(C;C)
Significance Probable-Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135777011delG
CLNSRC
CLNACC RCV000184013.1,