| ? | (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 19252927] Bladder cancer SNP panel predicts susceptibility and survival.
[PMID 20011102] Fine-scale variation and genetic determinants of alternative splicing across individuals.
[PMID 20445798] Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
[PMID 20875727] 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
|
|
