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rs440446

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome19
Position44905910
GeneAPOE
is asnp
is mentioned by
dbSNPrs440446
ebirs440446
HLIrs440446
Exacrs440446
Varsomers440446
Maprs440446
PheGenIrs440446
hapmaprs440446
1000 genomesrs440446
hgdprs440446
ensemblrs440446
gopubmedrs440446
geneviewrs440446
scholarrs440446
googlers440446
pharmgkbrs440446
gwascentralrs440446
openSNPrs440446
23andMers440446
23andMe allrs440446
SNP Nexus

SNPshotrs440446
SNPdbers440446
MSV3drs440446
GWAS Ctlgrs440446
GMAF0.3838
Max Magnitude0
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 18296645OA-icon.png]

Note: orientation relative to dbSNP entry is reversed as published.

Neighborrs405509
Distance331
[PMID 19888660OA-icon.png] 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 22028770OA-icon.png] APOE Genotype-Function Relationship: Evidence of -491 A/T Promoter Polymorphism Modifying Transcription Control but Not Type 2 Diabetes Risk

[PMID 15113403OA-icon.png] 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 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

[PMID 17672902OA-icon.png] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

[PMID 18076107OA-icon.png] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

[PMID 18813964OA-icon.png] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

[PMID 18974842OA-icon.png] Gender differences in genetic risk profiles for cardiovascular disease.

[PMID 19058936OA-icon.png] 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 25085564OA-icon.png] Influence of multiple