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rs587783014

From SNPedia

Orientationminus
Geno Mag Summary
(AGTGTAT;AGTGTAT) 0 common in clinvar
Make rs587783014(-;-)
Make rs587783014(-;AGTGTAT)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position135428648
GeneAHI1
is asnp
is mentioned by
dbSNPrs587783014
ebirs587783014
HLIrs587783014
Exacrs587783014
Varsomers587783014
Maprs587783014
PheGenIrs587783014
hapmaprs587783014
1000 genomesrs587783014
hgdprs587783014
ensemblrs587783014
gopubmedrs587783014
geneviewrs587783014
scholarrs587783014
googlers587783014
pharmgkbrs587783014
gwascentralrs587783014
openSNPrs587783014
23andMers587783014
23andMe allrs587783014
SNP Nexus

SNPshotrs587783014
SNPdbers587783014
MSV3drs587783014
GWAS Ctlgrs587783014
Max Magnitude0
ClinVar
Risk rs587783014(;)
Alt rs587783014(;)
Reference rs587783014(AGTGTAT;AGTGTAT)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135749786_135749792delATACACT
CLNSRC
CLNACC RCV000144465.1,