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rs2278008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2278008(C;T)
Make rs2278008(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position33989413
GeneAMACR, MIR4324
is asnp
is mentioned by
dbSNPrs2278008
ebirs2278008
HLIrs2278008
Exacrs2278008
Varsomers2278008
Maprs2278008
PheGenIrs2278008
hapmaprs2278008
1000 genomesrs2278008
hgdprs2278008
ensemblrs2278008
gopubmedrs2278008
geneviewrs2278008
scholarrs2278008
googlers2278008
pharmgkbrs2278008
gwascentralrs2278008
openSNPrs2278008
23andMers2278008
23andMe allrs2278008
SNP Nexus

SNPshotrs2278008
SNPdbers2278008
MSV3drs2278008
GWAS Ctlgrs2278008
GMAF0.2332
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene AMACR
allele T
frequency 0.767
sift TOLERATED
HuRef 1103654071305
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.



[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-E277K
aa_change Glu277Lys
aa_change_short E277K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.755624
summary



ClinVar
Risk rs2278008(T;T)
Alt rs2278008(T;T)
Reference rs2278008(C;C)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene C1QTNF3-AMACR AMACR
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.33989518C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116324.2,