Rs10941112

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Orientationminus
Make rs10941112(A;A)
Make rs10941112(A;G)
Make rs10941112(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position34004602
GeneAMACR, MIR4324
is asnp
is mentioned by
dbSNPrs10941112
Exacrs10941112
PheGenIrs10941112
nextbiors10941112
hapmaprs10941112
1000 genomesrs10941112
hgdprs10941112
ensemblrs10941112
gopubmedrs10941112
geneviewrs10941112
scholarrs10941112
googlers10941112
pharmgkbrs10941112
gwascentralrs10941112
openSNPrs10941112
23andMers10941112
23andMe allrs10941112
SNP Nexus

SNPshotrs10941112
SNPdbers10941112
MSV3drs10941112
GMAF0.3517
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene AMACR
allele T
frequency 0.381
sift AFFECT FUNCTION
HuRef 1103654071329
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 19252927OA-icon.png] Bladder cancer SNP panel predicts susceptibility and survival.


[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.


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


GET Evidence
AMACR-G175D
aa_change Gly175Asp
aa_change_short G175D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.381112
summary