rs440446
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;G) | increased risk in men for biliary conditions | |
| (G;G) | 0 | increased risk in men for biliary conditions |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 44905910 |
| Gene | APOE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs440446 |
| dbSNP (classic) | rs440446 |
| ClinGen | rs440446 |
| ebi | rs440446 |
| HLI | rs440446 |
| Exac | rs440446 |
| Gnomad | rs440446 |
| Varsome | rs440446 |
| LitVar | rs440446 |
| Map | rs440446 |
| PheGenI | rs440446 |
| Biobank | rs440446 |
| 1000 genomes | rs440446 |
| hgdp | rs440446 |
| ensembl | rs440446 |
| geneview | rs440446 |
| scholar | rs440446 |
| rs440446 | |
| pharmgkb | rs440446 |
| gwascentral | rs440446 |
| openSNP | rs440446 |
| 23andMe | rs440446 |
| SNPshot | rs440446 |
| SNPdbe | rs440446 |
| MSV3d | rs440446 |
| GWAS Ctlg | rs440446 |
| GMAF | 0.3838 |
| Max Magnitude | 0 |
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).[PMID 18296645
]
Note: orientation relative to dbSNP entry is reversed as published.
[PMID 19888660] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China
[PMID 21266206] Association of apolipoprotein E promoter polymorphisms with bone structural traits is modified by dietary saturated fat intake - The Cardiovascular Risk in Young Finns Study
[PMID 22028770] APOE Genotype-Function Relationship: Evidence of -491 A/T Promoter Polymorphism Modifying Transcription Control but Not Type 2 Diabetes Risk
[PMID 15113403] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
[PMID 15157284] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 17672902] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
[PMID 18076107] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.
[PMID 18813964] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.
[PMID 19058936] A polymorphism of apolipoprotein E (APOE) gene is associated with age at natural menopause in Caucasian females.
[PMID 20546958] Association between an intronic apolipoprotein E polymorphism and bone mineral density in Singaporean Chinese females.
[PMID 20663622] A susceptible haplotype within APOE gene influences BMD and intensifies the osteoporosis risk in postmenopausal women of Northwest India.
[PMID 20723945] The APOE -219G/T and +113G/C polymorphisms affect insulin resistance among Turks.
[PMID 25085564] Influence of multiple
