Standard

QT interval

PMP22 · rs1804193

Where this position leads

Condition: QT Interval and Drug-Induced Long QT

What the study found

Who was studied 252,730 European ancestry, African ancestry, Hispanic or Latin American, South East Asian ancestry, South Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.036 higher (95% confidence interval 0.024-0.048); p = 2 × 10⁻⁹.

How common The T allele had a frequency of about 8% in the people studied.

Where it sits Chromosome 17, band 17p12 — in the 3′ untranslated region of PMP22.

What ClinVar records

Classification Benign/Likely benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-14. ClinVar record 321855 NM_000304.4(PMP22):c.*228G>A

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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 No copy of the version the research linked to QT interval. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to QT interval. That is a smaller link than two copies.

T/T Two copies of the version the research linked to QT interval. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

Young WJ, Lahrouchi N, Isaacs A, Duong T, Foco L, Ahmed F, Brody JA, Salman R, Noordam R, Benjamins JW, Haessler J, Lyytikäinen LP

and 154 more — show all

Repetto L, Concas MP, van den Berg ME, Weiss S, Baldassari AR, Bartz TM, Cook JP, Evans DS, Freudling R, Hines O, Isaksen JL, Lin H, Mei H, Moscati A, Müller-Nurasyid M, Nursyifa C, Qian Y, Richmond A, Roselli C, Ryan KA, Tarazona-Santos E, Thériault S, van Duijvenboden S, Warren HR, Yao J, Raza D, Aeschbacher S, Ahlberg G, Alonso A, Andreasen L, Bis JC, Boerwinkle E, Campbell A, Catamo E, Cocca M, Cutler MJ, Darbar D, De Grandi A, De Luca A, Ding J, Ellervik C, Ellinor PT, Felix SB, Froguel P, Fuchsberger C, Gögele M, Graff C, Graff M, Guo X, Hansen T, Heckbert SR, Huang PL, Huikuri HV, Hutri-Kähönen N, Ikram MA, Jackson RD, Junttila J, Kavousi M, Kors JA, Leal TP, Lemaitre RN, Lin HJ, Lind L, Linneberg A, Liu S, MacFarlane PW, Mangino M, Meitinger T, Mezzavilla M, Mishra PP, Mitchell RN, Mononen N, Montasser ME, Morrison AC, Nauck M, Nauffal V, Navarro P, Nikus K, Pare G, Patton KK, Pelliccione G, Pittman A, Porteous DJ, Pramstaller PP, Preuss MH, Raitakari OT, Reiner AP, Ribeiro ALP, Rice KM, Risch L, Schlessinger D, Schotten U, Schurmann C, Shen X, Shoemaker MB, Sinagra G, Sinner MF, Soliman EZ, Stoll M, Strauch K, Tarasov K, Taylor KD, Tinker A, Trompet S, Uitterlinden A, Völker U, Völzke H, Waldenberger M, Weng LC, Whitsel EA, Wilson JG, Avery CL, Conen D, Correa A, Cucca F, Dörr M, Gharib SA, Girotto G, Grarup N, Hayward C, Jamshidi Y, Järvelin MR, Jukema JW, Kääb S, Kähönen M, Kanters JK, Kooperberg C, Lehtimäki T, Lima-Costa MF, Liu Y, Loos RJF, Lubitz SA, Mook-Kanamori DO, Morris AP, O'Connell JR, Olesen MS, Orini M, Padmanabhan S, Pattaro C, Peters A, Psaty BM, Rotter JI, Stricker B, van der Harst P, van Duijn CM, Verweij N, Wilson JF, Arking DE, Ramirez J, Lambiase PD, Sotoodehnia N, Mifsud B, Newton-Cheh C, Munroe PB

Nature communications · 2022 · PMID 36050321 · open access

Questions about rs1804193

What is rs1804193?

rs1804193 is a single position in the genome, in or near the PMP22 gene. Published research associates it with qt interval. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1804193 linked to?

On MyGeneLog this position is linked to QT Interval and Drug-Induced Long QT. The research behind each link, and its sources, are set out on that condition page.

Does having rs1804193 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 rs1804193 come from?

GWAS Catalog, Nature communications 2022, PMID:36050321. 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.

QT interval (rs1804193). MyGeneLog™. https://www.mygenelog.com/variants/rs1804193

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