rs10941112
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs10941112(A;A) |
Make rs10941112(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 34004602 |
Gene | AMACR, C1QTNF3-AMACR |
is a | snp |
is | mentioned by |
dbSNP | rs10941112 |
dbSNP (classic) | rs10941112 |
ClinGen | rs10941112 |
ebi | rs10941112 |
HLI | rs10941112 |
Exac | rs10941112 |
Gnomad | rs10941112 |
Varsome | rs10941112 |
LitVar | rs10941112 |
Map | rs10941112 |
PheGenI | rs10941112 |
Biobank | rs10941112 |
1000 genomes | rs10941112 |
hgdp | rs10941112 |
ensembl | rs10941112 |
geneview | rs10941112 |
scholar | rs10941112 |
rs10941112 | |
pharmgkb | rs10941112 |
gwascentral | rs10941112 |
openSNP | rs10941112 |
23andMe | rs10941112 |
SNPshot | rs10941112 |
SNPdbe | rs10941112 |
MSV3d | rs10941112 |
GWAS Ctlg | rs10941112 |
GMAF | 0.3517 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[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.
ClinVar | |
---|---|
Risk | rs10941112(A;A) |
Alt | rs10941112(A;A) |
Reference | Rs10941112(G;G) |
Significance | Other |
Disease | not specified Alpha-methylacyl-CoA racemase deficiency |
Variation | info |
Gene | C1QTNF3-AMACR AMACR |
CLNDBN | not specified Alpha-methylacyl-CoA racemase deficiency |
Reversed | 1 |
HGVS | NC_000005.9:g.34004707C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000116321.3, RCV000333635.1, |
[PMID 28902459] Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance.