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rs777668842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs777668842(A;A)
Make rs777668842(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135455811
GeneAHI1
is asnp
is mentioned by
dbSNPrs777668842
dbSNP (classic)rs777668842
ClinGenrs777668842
ebirs777668842
HLIrs777668842
Exacrs777668842
Gnomadrs777668842
Varsomers777668842
LitVarrs777668842
Maprs777668842
PheGenIrs777668842
Biobankrs777668842
1000 genomesrs777668842
hgdprs777668842
ensemblrs777668842
geneviewrs777668842
scholarrs777668842
googlers777668842
pharmgkbrs777668842
gwascentralrs777668842
openSNPrs777668842
23andMers777668842
SNPshotrs777668842
SNPdbers777668842
MSV3drs777668842
GWAS Ctlgrs777668842
Max Magnitude0
ClinVar
Risk rs777668842(A;A)
Alt rs777668842(A;A)
Reference Rs777668842(G;G)
Significance Pathogenic
Disease Joubert syndrome 3 Joubert syndrome not provided
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3 Joubert syndrome not provided
Reversed 0
HGVS NC_000006.11:g.135776949G>A
CLNSRC
CLNACC RCV000201715.1, RCV000206729.1, RCV000482493.1,