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rs2287939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs2287939(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position33998778
GeneAMACR, MIR4324
is asnp
is mentioned by
dbSNPrs2287939
ebirs2287939
HLIrs2287939
Exacrs2287939
Varsomers2287939
Maprs2287939
PheGenIrs2287939
hapmaprs2287939
1000 genomesrs2287939
hgdprs2287939
ensemblrs2287939
gopubmedrs2287939
geneviewrs2287939
scholarrs2287939
googlers2287939
pharmgkbrs2287939
gwascentralrs2287939
openSNPrs2287939
23andMers2287939
23andMe allrs2287939
SNP Nexus

SNPshotrs2287939
SNPdbers2287939
MSV3drs2287939
GWAS Ctlgrs2287939
GMAF0.2374
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene AMACR
allele G
frequency 0.725
sift TOLERATED
HuRef 1103654071344
Disease Association Defects in AMACR are the cause of AMACR deficiency (MIM:604489). It results in elevated concentrations of pristanic acid. It is associated with a form of adult onset sensory motor neuropathy.



Neighborrs34677
Distance115
[PMID 20945498OA-icon.png] AMACR polymorphisms, dietary intake of red meat and dairy and prostate cancer risk

[PMID 20445798OA-icon.png] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.

[PMID 20875727OA-icon.png] Non-synonymous variants in the AMACR gene are associated with schizophrenia.


GET Evidence
AMACR-L201S
aa_change Leu201Ser
aa_change_short L201S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.74763
summary



ClinVar
Risk rs2287939(C;C)
Alt rs2287939(C;C)
Reference rs2287939(T;T)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene C1QTNF3-AMACR AMACR
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.33998883A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000116322.2,