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rs753085250

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs753085250(C;C)
Make rs753085250(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135455928
GeneAHI1
is asnp
is mentioned by
dbSNPrs753085250
ebirs753085250
HLIrs753085250
Exacrs753085250
Varsomers753085250
Maprs753085250
PheGenIrs753085250
hapmaprs753085250
1000 genomesrs753085250
hgdprs753085250
ensemblrs753085250
gopubmedrs753085250
geneviewrs753085250
scholarrs753085250
googlers753085250
pharmgkbrs753085250
gwascentralrs753085250
openSNPrs753085250
23andMers753085250
23andMe allrs753085250
SNP Nexus

SNPshotrs753085250
SNPdbers753085250
MSV3drs753085250
GWAS Ctlgrs753085250
Max Magnitude0
ClinVar
Risk rs753085250(C;C)
Alt rs753085250(C;C)
Reference rs753085250(T;T)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135777066T>C
CLNSRC
CLNACC RCV000201545.1,