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
exon3 Arg48His	SI000229N	Alcohol Dehydrogenase 1B (class I), beta polypeptide	ADH1B

Fst	Avg Het	# Populations Typed
0.407	0.208	241

Synonyms: rs1229984 ; Arg47His ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: dbSNP ss# Record Typing Protocol Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: A substitution of Histidine for the ancestral Arginine allele at codon 48 in exon 3 of the ADH1B gene.
Ancestral Allele: R
Ancestral Allele Determine by: Sequence of at least one chimp, gorilla, and orangutan
Alleles:

Allele Name	Allele Symbol	Description
Codon 48 Arg	G	MslI site absent: 5'- ctgtaggaatctgt C G C acagatgaccacgt -3'
Codon 48 His	A	MslI site present: 5'- ctgtaggaatctgt C A C acagatgaccacgt -3'

References:
- Osier MV, Pakstis AJ, Kidd JR, Lee JF, Yin SJ, Ko HC, Edenberg HJ, Lu RB, and Kidd KK. "Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism". Am. J. Hum. Genet. 64:1147-1157. (1999) Online citation.

- Osier MV, Pakstis AJ, Soodyall H, Comas D, Goldman D, Odunsi A, Okonofua F, Parnas J, Schulz LO, Bertranpetit J, Bonne-Tamir B, Lu RB, Kidd JR, Kidd KK. "A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity". Am J Hum Genet 71:84-99. (2002) Online citation.

- Osier MV. "Genetic Variation and Linkage Disequilibrium in the Human Alcohol Dehydrogenase Genes". Dissertation, Yale University (2002)

© 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