rs41303343

minus

Geno	Mag	Summary
(-;-)	0	normal
(-;T)	2	carrier of one CYP3A5*7 allele
(T;T)	2.5	Miscall in 23andMe v4 data; otherwise, CYP3A5*7 homozygote; nonexpressor for CYP3A5

Reference

GRCh38 38.1/142

Chromosome

7

Position

99652770

Gene	CYP3A5, ZSCAN25

is a	snp
is	mentioned by
dbSNP	rs41303343
dbSNP (classic)	rs41303343
ClinGen	rs41303343
ebi	rs41303343
HLI	rs41303343
Exac	rs41303343
Gnomad	rs41303343
Varsome	rs41303343
LitVar	rs41303343
Map	rs41303343
PheGenI	rs41303343
Biobank	rs41303343
1000 genomes	rs41303343
hgdp	rs41303343
ensembl	rs41303343
geneview	rs41303343
scholar	rs41303343
google	rs41303343
pharmgkb	rs41303343
gwascentral	rs41303343
openSNP	rs41303343
23andMe	rs41303343
SNPshot	rs41303343
SNPdbe	rs41303343
MSV3d	rs41303343
GWAS Ctlg	rs41303343

GMAF

0.02938

Max Magnitude

2.5

rs41303343, also known as 27131_27132insT, is a SNP in the CYP3A5 gene.

The rs41303343(T) allele defines the CYP3A5*7 variant, which is nonfunctional and has the highest prevalence in those of African descent (where ~8% of the population are carriers).

Note that the scientific literature (and PharmGKB, among other sources) often incorrectly reports a different SNP (rs76293380) as defining the CYP3A5*7 allele. That SNP is actually defined as a deletion, not as in insertion, at the same position as rs41303343.

In 23andMe v4-based data, this SNP is reported nearly 100% of the time as II (which would be equivalent to TT), and this is clearly incorrect. In 23andMe v5-based data, this SNP is normally missing.

[PMID 21806386] Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients

[PMID 24427273 ] Global Pharmacogenomics: Distribution of CYP3A5 Polymorphisms and Phenotypes in the Brazilian Population