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rs745507530

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs745507530(A;A)
Make rs745507530(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135428691
GeneAHI1
is asnp
is mentioned by
dbSNPrs745507530
ebirs745507530
HLIrs745507530
Exacrs745507530
Varsomers745507530
Maprs745507530
PheGenIrs745507530
hapmaprs745507530
1000 genomesrs745507530
hgdprs745507530
ensemblrs745507530
gopubmedrs745507530
geneviewrs745507530
scholarrs745507530
googlers745507530
pharmgkbrs745507530
gwascentralrs745507530
openSNPrs745507530
23andMers745507530
23andMe allrs745507530
SNP Nexus

SNPshotrs745507530
SNPdbers745507530
MSV3drs745507530
GWAS Ctlgrs745507530
Max Magnitude0
ClinVar
Risk rs745507530(A;A)
Alt rs745507530(A;A)
Reference rs745507530(C;C)
Significance Probable-Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135749829C>A
CLNSRC
CLNACC RCV000200234.1,