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rs3195676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3195676(A;A)
Make rs3195676(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position34007995
GeneAMACR, MIR4324
is asnp
is mentioned by
dbSNPrs3195676
ebirs3195676
HLIrs3195676
Exacrs3195676
Varsomers3195676
Maprs3195676
PheGenIrs3195676
hapmaprs3195676
1000 genomesrs3195676
hgdprs3195676
ensemblrs3195676
gopubmedrs3195676
geneviewrs3195676
scholarrs3195676
googlers3195676
pharmgkbrs3195676
gwascentralrs3195676
openSNPrs3195676
23andMers3195676
23andMe allrs3195676
SNP Nexus

SNPshotrs3195676
SNPdbers3195676
MSV3drs3195676
GWAS Ctlgrs3195676
GMAF0.3811
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene AMACR
allele T
frequency 0.375
sift AFFECT FUNCTION
HuRef 1103654071337
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 17683075] Sequence variation in alpha-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer.


[PMID 20011102OA-icon.png] Fine-scale variation and genetic determinants of alternative splicing across individuals.


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


GET Evidence
AMACR-V9M
aa_change Val9Met
aa_change_short V9M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.415098
summary



ClinVar
Risk rs3195676(A;A)
Alt rs3195676(A;A)
Reference rs3195676(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.34008100C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000116320.2,