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rs121917814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917814(C;C)
Make rs121917814(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position34007866
GeneAMACR, MIR4324
is asnp
is mentioned by
dbSNPrs121917814
ebirs121917814
HLIrs121917814
Exacrs121917814
Varsomers121917814
Maprs121917814
PheGenIrs121917814
hapmaprs121917814
1000 genomesrs121917814
hgdprs121917814
ensemblrs121917814
gopubmedrs121917814
geneviewrs121917814
scholarrs121917814
googlers121917814
pharmgkbrs121917814
gwascentralrs121917814
openSNPrs121917814
23andMers121917814
23andMe allrs121917814
SNP Nexus

SNPshotrs121917814
SNPdbers121917814
MSV3drs121917814
GWAS Ctlgrs121917814
Max Magnitude0
ClinVar
Risk rs121917814(C;C)
Alt rs121917814(C;C)
Reference rs121917814(T;T)
Significance Pathogenic
Disease Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect
Variation info
Gene C1QTNF3-AMACR AMACR
CLNDBN Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect, congenital, 4
Reversed 1
HGVS NC_000005.9:g.34007971A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005858.2, RCV000005859.2,