rs520354
A SNP in the APOB gene on chromosome 2. Its most notable genotype is A;A: increased risk in men for biliary conditions
- Gene
- APOB
- Location
- Chr 221,036,740 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 50%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadincreased risk in men for biliary conditions
- A;GBadincreased risk in men for biliary conditions
- G;GGoodnormal risk in men for biliary conditions
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 36% A;G 33% G;G 31%
- European ancestry (Utah)A;A 30% A;G 50% G;G 20%
- Han Chinese (Beijing)A;A <1% A;G 25% G;G 75%
- Japanese (Tokyo)A;A 2% A;G 20% G;G 79%
- Yoruba (Nigeria)A;A 77% A;G 22% G;G 1%
- African ancestry (Southwest US)A;A 68% A;G 30% G;G 2%
- Chinese (Denver)A;A 6% A;G 20% G;G 73%
- Gujarati IndianA;A 11% A;G 47% G;G 43%
- Luhya (Kenya)A;A 76% A;G 22% G;G 2%
- Mexican ancestry (Los Angeles)A;A 38% A;G 41% G;G 21%
- Maasai (Kenya)A;A 60% A;G 34% G;G 6%
- TuscanA;A 28% A;G 51% G;G 21%
Related
Other APOB SNPs
- i4000339A;AFamilial Hypercholesterolemia Type BVery important
- rs5742904A;CFamilial HypercholesterolemiaVery important
- rs144467873A;Afamilial hypercholesterolemiaVery important
- rs730880052G;TFamilial HypercholesterolemiaVery important
- rs886039829-;THypercholesterolemia, Type B; heterozygoteImportant
- rs12713559A;Gcarrier of possible familial hypercholesterolemia mutationImportant
- rs121918383A;GCarrier of a hypobetalipoproteinemia mutationImportant
- rs121918384-;GTCarrier of a hypobetalipoproteinemia mutationImportant
Notes
From SNPedia
Notes
rs520354 is a SNP in an intron of the apolipoprotein B APOB gene; it is also known as the IVS6+360C>T variant. In a study of ~1,000 Chinese patients with various biliary tract conditions, including cancer and gallstones, men carrying a rs520354(A) allele had a 2x risk of bile duct cancer (CI: 1.2-3.4).
Source and license
Adapted from rs520354 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.