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rs797045223

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045223(G;T)
Make rs797045223(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135442633
GeneAHI1
is asnp
is mentioned by
dbSNPrs797045223
ebirs797045223
HLIrs797045223
Exacrs797045223
Varsomers797045223
Maprs797045223
PheGenIrs797045223
hapmaprs797045223
1000 genomesrs797045223
hgdprs797045223
ensemblrs797045223
gopubmedrs797045223
geneviewrs797045223
scholarrs797045223
googlers797045223
pharmgkbrs797045223
gwascentralrs797045223
openSNPrs797045223
23andMers797045223
23andMe allrs797045223
SNP Nexus

SNPshotrs797045223
SNPdbers797045223
MSV3drs797045223
GWAS Ctlgrs797045223
Max Magnitude0
ClinVar
Risk rs797045223(T;T)
Alt rs797045223(T;T)
Reference rs797045223(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135763771C>A
CLNSRC
CLNACC RCV000194226.1,