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rs34677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common on affy axiom data
Make rs34677(G;T)
Make rs34677(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position33998663
GeneAMACR, C1QTNF3-AMACR
is asnp
is mentioned by
dbSNPrs34677
ebirs34677
HLIrs34677
Exacrs34677
Varsomers34677
Maprs34677
PheGenIrs34677
hapmaprs34677
1000 genomesrs34677
hgdprs34677
ensemblrs34677
gopubmedrs34677
geneviewrs34677
scholarrs34677
googlers34677
pharmgkbrs34677
gwascentralrs34677
openSNPrs34677
23andMers34677
23andMe allrs34677
SNP Nexus

SNPshotrs34677
SNPdbers34677
MSV3drs34677
GWAS Ctlgrs34677
GMAF0.1166
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene AMACR
allele A
frequency 0.092
sift
HuRef 1103654071314
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.



Neighborrs2287939
Distance115
[PMID 20445798OA-icon.png] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.


GET Evidence
AMACR-Q239H
aa_change Gln239His
aa_change_short Q239H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.11768
summary



ClinVar
Risk rs34677(T;T)
Alt rs34677(T;T)
Reference rs34677(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene C1QTNF3-AMACR AMACR
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.33998768C>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000116323.2,