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rs797045224

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045224(A;G)
Make rs797045224(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135433206
GeneAHI1
is asnp
is mentioned by
dbSNPrs797045224
ebirs797045224
HLIrs797045224
Exacrs797045224
Varsomers797045224
Maprs797045224
PheGenIrs797045224
hapmaprs797045224
1000 genomesrs797045224
hgdprs797045224
ensemblrs797045224
gopubmedrs797045224
geneviewrs797045224
scholarrs797045224
googlers797045224
pharmgkbrs797045224
gwascentralrs797045224
openSNPrs797045224
23andMers797045224
23andMe allrs797045224
SNP Nexus

SNPshotrs797045224
SNPdbers797045224
MSV3drs797045224
GWAS Ctlgrs797045224
Max Magnitude0
ClinVar
Risk rs797045224(G;G)
Alt rs797045224(G;G)
Reference rs797045224(A;A)
Significance Probable-Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135754344T>C
CLNSRC
CLNACC RCV000195247.1,