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rs764412921

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs764412921(A;G)
Make rs764412921(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135438494
GeneAHI1
is asnp
is mentioned by
dbSNPrs764412921
ebirs764412921
HLIrs764412921
Exacrs764412921
Varsomers764412921
Maprs764412921
PheGenIrs764412921
hapmaprs764412921
1000 genomesrs764412921
hgdprs764412921
ensemblrs764412921
gopubmedrs764412921
geneviewrs764412921
scholarrs764412921
googlers764412921
pharmgkbrs764412921
gwascentralrs764412921
openSNPrs764412921
23andMers764412921
23andMe allrs764412921
SNP Nexus

SNPshotrs764412921
SNPdbers764412921
MSV3drs764412921
GWAS Ctlgrs764412921
Max Magnitude0
ClinVar
Risk rs764412921(G;G)
Alt rs764412921(G;G)
Reference rs764412921(A;A)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135759632A>T
CLNSRC
CLNACC RCV000201738.1,