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rs368788993

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs368788993(A;T)
Make rs368788993(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135427226
GeneAHI1
is asnp
is mentioned by
dbSNPrs368788993
ebirs368788993
HLIrs368788993
Exacrs368788993
Varsomers368788993
Maprs368788993
PheGenIrs368788993
hapmaprs368788993
1000 genomesrs368788993
hgdprs368788993
ensemblrs368788993
gopubmedrs368788993
geneviewrs368788993
scholarrs368788993
googlers368788993
pharmgkbrs368788993
gwascentralrs368788993
openSNPrs368788993
23andMers368788993
23andMe allrs368788993
SNP Nexus

SNPshotrs368788993
SNPdbers368788993
MSV3drs368788993
GWAS Ctlgrs368788993
Max Magnitude0
ClinVar
Risk rs368788993(T;T)
Alt rs368788993(T;T)
Reference rs368788993(A;A)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135748364A>T
CLNSRC
CLNACC RCV000201756.1,