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rs587783013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783013(A;A)
Make rs587783013(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position135433119
GeneAHI1
is asnp
is mentioned by
dbSNPrs587783013
dbSNP (classic)rs587783013
ClinGenrs587783013
ebirs587783013
HLIrs587783013
Exacrs587783013
Gnomadrs587783013
Varsomers587783013
LitVarrs587783013
Maprs587783013
PheGenIrs587783013
Biobankrs587783013
1000 genomesrs587783013
hgdprs587783013
ensemblrs587783013
geneviewrs587783013
scholarrs587783013
googlers587783013
pharmgkbrs587783013
gwascentralrs587783013
openSNPrs587783013
23andMers587783013
SNPshotrs587783013
SNPdbers587783013
MSV3drs587783013
GWAS Ctlgrs587783013
Max Magnitude0
ClinVar
Risk rs587783013(A;A)
Alt rs587783013(A;A)
Reference Rs587783013(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135754257C>T
CLNSRC
CLNACC RCV000144464.2,