Standard

Age-related macular degeneration

CETP · rs1864163

Where this position leads

Condition: Age-Related Macular Degeneration

What the study found

Who was studied 6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls; replicated in 9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls.

The effect Each copy of the G allele carried 1.22 times the odds of Age-related macular degeneration (95% confidence interval 1.17-1.27); p = 7 × 10⁻¹⁶.

How common The G allele had a frequency of about 76% in the people studied.

Where it sits Chromosome 16, band 16q13 — in an intron of CETP.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-08-30. ClinVar record 1181969 NM_000078.3(CETP):c.233+197G>A

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version the research linked to Age-related macular degeneration. This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Age-related macular degeneration. That is a smaller link than two copies.

G/G Two copies of the version the research linked to Age-related macular degeneration. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Seven new loci associated with age-related macular degeneration

Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH

and 144 more — show all

Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR

AMD Gene Consortium

Nature genetics · 2013 · PMID 23455636 · open access

What people read about alongside this

Heart and circulation1 Longevity and ageing1

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs1864163

What is rs1864163?

rs1864163 is a single position in the genome, in or near the CETP gene. Published research associates it with age-related macular degeneration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1864163 linked to?

On MyGeneLog this position is linked to Age-Related Macular Degeneration. The research behind each link, and its sources, are set out on that condition page.

Does rs1864163 affect how medicines work?

CETP carries pharmacogenomic findings for Statins. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

What do people read about alongside rs1864163?

Subjects that appear in the title or abstract of the same papers as this rsID include heart and circulation (1 papers), longevity and ageing (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs1864163 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs1864163 come from?

GWAS Catalog, Nat Genet 2013, PMID:23455636. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Age-related macular degeneration (rs1864163). MyGeneLog™. https://www.mygenelog.com/variants/rs1864163

← See all variants