rs440446
A SNP in the APOE gene on chromosome 19. Its most notable genotype is C;C: normal
- Gene
- APOE
- Location
- Chr 1944,905,910 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe
- Minor allele frequency
- 38%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableNot ratednormal
- C;GBadincreased risk in men for biliary conditions
- G;GBadincreased risk in men for biliary conditions
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other APOE SNPs
- rs121918393A;ATwo copies of ApoE3 Christchurch variant (apparently)Very important
- rs121918394A;GHyperlipoproteinemia, type IIIVery important
- rs267606664A;GRare ApoE1 allele; clinical significance unclearVery important
- i5000217C;Tfamilial hyperlipoproteinemia, type IIIImportant
- rs387906567C;TFamilial type 3 hyperlipoproteinemiaImportant
- rs199768005A;TMarked reduced risk of Alzheimer's DiseaseWorth knowing
- rs449647T;Tlower levels of ApoEWorth knowing
- rs429358C;Cone of 2 snps relevant to classifying APOE genotypeMinor
Notes
From SNPedia
Show notes, about 270 words
rs440446 is a SNP in an intron of the apolipoprotein E APOE gene; it is also known as the IVS1+69 variant. In a study of ~1,000 Chinese patients with various biliary tract conditions, including cancer and gallstones, men carrying a rs440446(C) allele (in dbSNP orientation) had a 1.7x risk of gallstone disease [CI: 1.2-2.4], a 1.8x risk of gallbladder cancer (CI: 1.0-3.3), a 3.7x risk of bile duct cancer (CI: 2.0-7.0), and a 4x risk of ampullary cancer (CI: 1.4-12.4). Note: orientation relative to dbSNP entry is reversed as published. Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes. Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis. Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta. Gender differences in genetic risk profiles for cardiovascular disease. A polymorphism of apolipoprotein E (APOE) gene is associated with age at natural menopause in Caucasian females. Association between an intronic apolipoprotein E polymorphism and bone mineral density in Singaporean Chinese females. A susceptible haplotype within APOE gene influences BMD and intensifies the osteoporosis risk in postmenopausal women of Northwest India. The APOE -219G/T and +113G/C polymorphisms affect insulin resistance among Turks.
Source and license
Adapted from rs440446 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.