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rs371637724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371637724(C;C)
Make rs371637724(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135448400
GeneAHI1
is asnp
is mentioned by
dbSNPrs371637724
ClinGenrs371637724
ebirs371637724
HLIrs371637724
Exacrs371637724
Varsomers371637724
Maprs371637724
PheGenIrs371637724
hapmaprs371637724
1000 genomesrs371637724
hgdprs371637724
ensemblrs371637724
gopubmedrs371637724
geneviewrs371637724
scholarrs371637724
googlers371637724
pharmgkbrs371637724
gwascentralrs371637724
openSNPrs371637724
23andMers371637724
23andMe allrs371637724
SNP Nexus

SNPshotrs371637724
SNPdbers371637724
MSV3drs371637724
GWAS Ctlgrs371637724
Max Magnitude0
ClinVar
Risk rs371637724(A;A) rs371637724(C;C)
Alt rs371637724(A;A) rs371637724(C;C)
Reference Rs371637724(G;G)
Significance Pathogenic
Disease Joubert syndrome 3
Variation info
Gene AHI1
CLNDBN Joubert syndrome 3
Reversed 0
HGVS NC_000006.11:g.135769538G>A
CLNSRC
CLNACC RCV000201739.1,