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Age-related macular degeneration

B3GALTL · rs9542236

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 C allele carried 1.10 times the odds of Age-related macular degeneration (95% confidence interval 1.07-1.14); p = 2 × 10⁻⁸.

How common The C allele had a frequency of about 44% in the people studied.

Where it sits Chromosome 13, band 13q12.3 — in an intron of B3GLCT.

What ClinVar records

Classification not provided; no classification provided (0 of 4 stars, 1 submitter). ClinVar record 162173 NM_194318.4(B3GLCT):c.271-1835T>C

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

C/C 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.

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

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

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

Questions about rs9542236

What is rs9542236?

rs9542236 is a single position in the genome, in or near the B3GALTL 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 rs9542236 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 having rs9542236 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 rs9542236 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 (rs9542236). MyGeneLog™. https://www.mygenelog.com/variants/rs9542236

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