ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Polymorphism Information

Name	ALFRED UID	Locus Name	Locus Symbol
G20210A	SI001215J	Coagulation factor II (thrombin)	F2

Fst	Avg Het	# Populations Typed
0.015	0.022	10

Synonyms: rs1799963 ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

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.
Alleles:

Allele Name	Allele Symbol	Description
A	A	5' - aagtgactctcagc A agcctcaatgctccc - 3'
G	G	5' - aagtgactctcagc G agcctcaatgctccc - 3'

References:
- 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