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rs755407014

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs755407014(-;-)
Make rs755407014(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135433121
GeneAHI1
is asnp
is mentioned by
dbSNPrs755407014
dbSNP (classic)rs755407014
ClinGenrs755407014
ebirs755407014
HLIrs755407014
Exacrs755407014
Gnomadrs755407014
Varsomers755407014
LitVarrs755407014
Maprs755407014
PheGenIrs755407014
Biobankrs755407014
1000 genomesrs755407014
hgdprs755407014
ensemblrs755407014
geneviewrs755407014
scholarrs755407014
googlers755407014
pharmgkbrs755407014
gwascentralrs755407014
openSNPrs755407014
23andMers755407014
SNPshotrs755407014
SNPdbers755407014
MSV3drs755407014
GWAS Ctlgrs755407014
Max Magnitude0
ClinVar
Risk rs755407014(-;-)
Alt rs755407014(-;-)
Reference Rs755407014(T;T)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135754259delT
CLNSRC
CLNACC RCV000201778.1,