rs5030865
A SNP in the LOC102723722 gene on chromosome 22. Its most notable genotype is A;A: CYP2D6*8 inactive type homozygote
- Gene
- LOC102723722
- Location
- Chr 2242,129,033 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableNot ratedCYP2D6*8 inactive type homozygote
- A;CNot ratedcarrier of one CYP2D6*8 inactive type allele
- A;TNot ratedcarrier of one CYP2D6*8 and one CYP2D6*14 inactive type alleles
- C;CGoodnormal
- C;TNot ratedcarrier of one CYP2D6*14 inactive type allele
- T;TNot ratedCYP2D6*14 inactive type homozygote
On SNPedia: (A;A), (A;C), (A;T), (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other LOC102723722 SNPs
- rs1135824C;CTwo copies of CYP2D6*3B non-functioning variantVery important
- rs5030867G;GCYP2D6*7 homozygoteVery important
- rs1065852A;AHomozygous for CYP2D6 decreased or non-functioning variants; possibly less response to some drugs, including tamoxifenImportant
- rs3892097T;TCYP2D6 poor metabolizer; many associations related to drug metabolismImportant
- rs5030655-;-CYP2D6*6 poor metabolizer phenotypeImportant
- rs28371733G;GHomozygous for non-functioning CYP2D6*4H variant.Important
- rs72549354C;CTwo CYP2D6*20 alleles; significantly lowered metabolism of certain drugsImportant
- rs1135840G;GHomozygous for CYP2D6 variants (non-CYP2D6*1)Worth knowing
Notes
From SNPedia
Notes
rs5030865 is a SNP in the CYP2D6 gene which defines two inactive variants, CYP2D6*8 and CYP2D6*14. This SNP has changed orientation in different reference genome builds and also has more than two allele changes possible, so references to it can be very confusing. The below are in genome build 37.1 plus orientation, while the "also knowns" are in minus orientation: rs5030865(C) is the normal variant rs5030865(A) is the CYP2D6*8 inactive variant, also known as 1758G>T or G169X rs5030865(T) is the CYP2D6*14 inactive variant, also known as 1758G>A or G169R
C;C
Normal rs5030865 variant in the CYP2D6 gene
Source and license
Adapted from rs5030865 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.