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rs863225140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGAGAAGAT;GAGAGAAGAT) 0 common in clinvar
Make rs863225140(-;-)
Make rs863225140(-;GAGAGAAGAT)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135433097
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225140
ClinGenrs863225140
ebirs863225140
HLIrs863225140
Exacrs863225140
Varsomers863225140
Maprs863225140
PheGenIrs863225140
hapmaprs863225140
1000 genomesrs863225140
hgdprs863225140
ensemblrs863225140
gopubmedrs863225140
geneviewrs863225140
scholarrs863225140
googlers863225140
pharmgkbrs863225140
gwascentralrs863225140
openSNPrs863225140
23andMers863225140
23andMe allrs863225140
SNP Nexus

SNPshotrs863225140
SNPdbers863225140
MSV3drs863225140
GWAS Ctlgrs863225140
Max Magnitude0
ClinVar
Risk rs863225140(-;-)
Alt rs863225140(-;-)
Reference Rs863225140(GAGAGAAGAT;GAGAGAAGAT)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135754235_135754244delATCTTCTCTC
CLNSRC
CLNACC RCV000201613.1,