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High light scatter reticulocyte count

SLCO1B1 · rs12819994

Where this position leads

What the study found

Who was studied 408,112 British individuals.

The effect Each copy of the C allele shifted the measure 0.0199 lower (95% confidence interval 0.014-0.026); p = 6 × 10⁻¹¹.

How common The C allele had a frequency of about 16% in the people studied.

Where it sits Chromosome 12, band 12p12.1 — in an intron of SLCO1B1.

What each result means

C/C Two copies of the version the research linked to High light scatter reticulocyte count. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/G One copy of the version the research linked to High light scatter reticulocyte count. That is a smaller link than two copies.

G/G No copy of the version the research linked to High light scatter reticulocyte count. This is the starting point the study compared everyone against.

Source

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen MH, Raffield LM, Tardaguila M, Huffman JE, Ritchie SC, Megy K

and 100 more — show all

Ponstingl H, Penkett CJ, Albers PK, Wigdor EM, Sakaue S, Moscati A, Manansala R, Lo KS, Qian H, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala KN, Wilson PWF, Choquet H, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Felix SB, Floyd JS, Broer L, Grarup N, Guo MH, Guo Q, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nikus K, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Ghanbari M, Völker U, Völzke H, Watkins NA, Weiss S, Cai N, Kundu K, Watt SB, Walter K, Zonderman AB, Cho K, Li Y, Loos RJF, Knight JC, Georges M, Stegle O, Evangelou E, Okada Y, Roberts DJ, Inouye M, Johnson AD, Auer PL, Astle WJ, Reiner AP, Butterworth AS, Ouwehand WH, Lettre G, Sankaran VG, Soranzo N

VA Million Veteran Program

Cell · 2020 · PMID 32888494 · open access

Questions about rs12819994

What is rs12819994?

rs12819994 is a single position in the genome, in or near the SLCO1B1 gene. Published research associates it with high light scatter reticulocyte count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs12819994 affect how medicines work?

SLCO1B1 carries pharmacogenomic findings for Statins, Ticagrelor. 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.

Does having rs12819994 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 rs12819994 come from?

GWAS Catalog, Cell 2020, PMID:32888494. 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.

High light scatter reticulocyte count (rs12819994). MyGeneLog™. https://www.mygenelog.com/variants/rs12819994

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