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rs776093293

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs776093293(A;A)
Make rs776093293(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135438374
GeneAHI1
is asnp
is mentioned by
dbSNPrs776093293
ebirs776093293
HLIrs776093293
Exacrs776093293
Varsomers776093293
Maprs776093293
PheGenIrs776093293
hapmaprs776093293
1000 genomesrs776093293
hgdprs776093293
ensemblrs776093293
gopubmedrs776093293
geneviewrs776093293
scholarrs776093293
googlers776093293
pharmgkbrs776093293
gwascentralrs776093293
openSNPrs776093293
23andMers776093293
23andMe allrs776093293
SNP Nexus

SNPshotrs776093293
SNPdbers776093293
MSV3drs776093293
GWAS Ctlgrs776093293
Max Magnitude0
ClinVar
Risk rs776093293(A;A)
Alt rs776093293(A;A)
Reference rs776093293(C;C)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135759512C>A
CLNSRC
CLNACC RCV000201625.1,