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rs117447608

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs117447608(A;A)
Make rs117447608(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135318577
GeneAHI1
is asnp
is mentioned by
dbSNPrs117447608
ebirs117447608
HLIrs117447608
Exacrs117447608
Varsomers117447608
Maprs117447608
PheGenIrs117447608
hapmaprs117447608
1000 genomesrs117447608
hgdprs117447608
ensemblrs117447608
gopubmedrs117447608
geneviewrs117447608
scholarrs117447608
googlers117447608
pharmgkbrs117447608
gwascentralrs117447608
openSNPrs117447608
23andMers117447608
23andMe allrs117447608
SNP Nexus

SNPshotrs117447608
SNPdbers117447608
MSV3drs117447608
GWAS Ctlgrs117447608
Max Magnitude0
ClinVar
Risk rs117447608(A;A)
Alt rs117447608(A;A)
Reference rs117447608(G;G)
Significance Probable-Pathogenic
Disease not specified Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN not specified Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135639715G>A
CLNSRC
CLNACC RCV000081799.4, RCV000200234.1,