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rs121917816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917816(C;C)
Make rs121917816(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position34005827
GeneAMACR, MIR4324
is asnp
is mentioned by
dbSNPrs121917816
ebirs121917816
HLIrs121917816
Exacrs121917816
Varsomers121917816
Maprs121917816
PheGenIrs121917816
hapmaprs121917816
1000 genomesrs121917816
hgdprs121917816
ensemblrs121917816
gopubmedrs121917816
geneviewrs121917816
scholarrs121917816
googlers121917816
pharmgkbrs121917816
gwascentralrs121917816
openSNPrs121917816
23andMers121917816
23andMe allrs121917816
SNP Nexus

SNPshotrs121917816
SNPdbers121917816
MSV3drs121917816
GWAS Ctlgrs121917816
Max Magnitude0
ClinVar
Risk rs121917816(C;C)
Alt rs121917816(C;C)
Reference rs121917816(T;T)
Significance Pathogenic
Disease Bile acid synthesis defect
Variation info
Gene C1QTNF3-AMACR AMACR
CLNDBN Bile acid synthesis defect, congenital, 4
Reversed 1
HGVS NC_000005.9:g.34005932A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005860.2,