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rs863225148

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225148(-;TTAC)
Make rs863225148(TTAC;TTAC)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135448285
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225148
ClinGenrs863225148
ebirs863225148
HLIrs863225148
Exacrs863225148
Varsomers863225148
Maprs863225148
PheGenIrs863225148
hapmaprs863225148
1000 genomesrs863225148
hgdprs863225148
ensemblrs863225148
gopubmedrs863225148
geneviewrs863225148
scholarrs863225148
googlers863225148
pharmgkbrs863225148
gwascentralrs863225148
openSNPrs863225148
23andMers863225148
23andMe allrs863225148
SNP Nexus

SNPshotrs863225148
SNPdbers863225148
MSV3drs863225148
GWAS Ctlgrs863225148
Max Magnitude0
ClinVar
Risk rs863225148(TTAC;TTAC)
Alt rs863225148(TTAC;TTAC)
Reference Rs863225148(;)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135769423_135769424insGTAA
CLNSRC
CLNACC RCV000201585.1,