rs35742686
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | CYP2D6*3 homozygote | |
(-;A) | carrier of one CYP2D6*3 allele | |
(A;A) | 0 | normal |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 42128242 |
Gene | CYP2D6, LOC102723722, LOC107987465, LOC107987481 |
is a | snp |
is | mentioned by |
dbSNP | rs35742686 |
dbSNP (classic) | rs35742686 |
ClinGen | rs35742686 |
ebi | rs35742686 |
HLI | rs35742686 |
Exac | rs35742686 |
Gnomad | rs35742686 |
Varsome | rs35742686 |
LitVar | rs35742686 |
Map | rs35742686 |
PheGenI | rs35742686 |
Biobank | rs35742686 |
1000 genomes | rs35742686 |
hgdp | rs35742686 |
ensembl | rs35742686 |
geneview | rs35742686 |
scholar | rs35742686 |
rs35742686 | |
pharmgkb | rs35742686 |
gwascentral | rs35742686 |
openSNP | rs35742686 |
23andMe | rs35742686 |
SNPshot | rs35742686 |
SNPdbe | rs35742686 |
MSV3d | rs35742686 |
GWAS Ctlg | rs35742686 |
GMAF | 0.009183 |
Max Magnitude | 0 |
rs35742686, which is also known as 2549delA, is a SNP in the CYP2D6 gene.
The rs35742686(-) allele defines the CYP2D6*3 variant, which is inactive. [PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
ClinVar | |
---|---|
Risk | Rs35742686(-;-) |
Alt | Rs35742686(-;-) |
Reference | Rs35742686(A;A) |
Significance | Drug-response |
Disease | Debrisoquine |
Variation | info |
Gene | CYP2D6 |
CLNDBN | Debrisoquine, poor metabolism of |
Reversed | 1 |
HGVS | NC_000022.10:g.42524244delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018390.25, |