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rs794727174

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727174(C;T)
Make rs794727174(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135431299
GeneAHI1
is asnp
is mentioned by
dbSNPrs794727174
ebirs794727174
HLIrs794727174
Exacrs794727174
Varsomers794727174
Maprs794727174
PheGenIrs794727174
hapmaprs794727174
1000 genomesrs794727174
hgdprs794727174
ensemblrs794727174
gopubmedrs794727174
geneviewrs794727174
scholarrs794727174
googlers794727174
pharmgkbrs794727174
gwascentralrs794727174
openSNPrs794727174
23andMers794727174
23andMe allrs794727174
SNP Nexus

SNPshotrs794727174
SNPdbers794727174
MSV3drs794727174
GWAS Ctlgrs794727174
Max Magnitude0
ClinVar
Risk rs794727174(T;T)
Alt rs794727174(T;T)
Reference rs794727174(C;C)
Significance Pathogenic
Disease not provided Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN not provided Joubert syndrome 3
Reversed 1
HGVS NC_000006.11:g.135752437G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000175088.1, RCV000185588.2,