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rs41303343

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome7
Position99652770
GeneCYP3A5, ZSCAN25
is asnp
is mentioned by
dbSNPrs41303343
dbSNP (classic)rs41303343
ClinGenrs41303343
ebirs41303343
HLIrs41303343
Exacrs41303343
Gnomadrs41303343
Varsomers41303343
LitVarrs41303343
Maprs41303343
PheGenIrs41303343
Biobankrs41303343
1000 genomesrs41303343
hgdprs41303343
ensemblrs41303343
geneviewrs41303343
scholarrs41303343
googlers41303343
pharmgkbrs41303343
gwascentralrs41303343
openSNPrs41303343
23andMers41303343
23andMe allrs41303343
SNPshotrs41303343
SNPdbers41303343
MSV3drs41303343
GWAS Ctlgrs41303343
GMAF0.02938
Max Magnitude2.5

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 24427273OA-icon.png] Global Pharmacogenomics: Distribution of CYP3A5 Polymorphisms and Phenotypes in the Brazilian Population