ALFRED detailed record information
Synonyms: rs1799963 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: dbSNP rs # Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This polymorphism is due to G to A transition at position 20210 in the 3'-untranslated region of the gene.This polymorphism is known to be associated with elevated levels of prothrombin in plasma which is related to an increased risk of thrombosis.This polymorphism is also known to increase the risk of myocardial infarction in young women.
|Allele Name||Allele Symbol||Description|
|A||A||5' - aagtgactctcagc A agcctcaatgctccc - 3'|
|G||G||5' - aagtgactctcagc G agcctcaatgctccc - 3'|
- Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. "A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis". Blood 88:3698-703. (1996) Online citation.
- Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL. "A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women". Blood 90:1747-50. (1997) Online citation.
© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan