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rs863225132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225132(-;GG)
Make rs863225132(GG;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135442595
GeneAHI1
is asnp
is mentioned by
dbSNPrs863225132
dbSNP (old)rs863225132
ClinGenrs863225132
ebirs863225132
HLIrs863225132
Exacrs863225132
Gnomadrs863225132
Varsomers863225132
Maprs863225132
PheGenIrs863225132
Biobankrs863225132
1000 genomesrs863225132
hgdprs863225132
ensemblrs863225132
gopubmedrs863225132
geneviewrs863225132
scholarrs863225132
googlers863225132
pharmgkbrs863225132
gwascentralrs863225132
openSNPrs863225132
23andMers863225132
23andMe allrs863225132
SNP Nexus

SNPshotrs863225132
SNPdbers863225132
MSV3drs863225132
GWAS Ctlgrs863225132
Max Magnitude0
ClinVar
Risk rs863225132(GG;GG)
Alt rs863225132(GG;GG)
Reference Rs863225132(-;-)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135763734_135763735dupCC
CLNSRC
CLNACC RCV000201727.1,