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.

Some interesting examples

rs17822931    ABC11    G/A SNP (Gly180Arg)   Earwax
G/A SNP in the coding region of ABCC11 gene resulting in non-synonymous change Glycine(GGG) -> Arginine(AGG) at aminoacid position 180 of the gene.

Allele A is associated with dry earwax type and is common in East Asian populations.

References
Site:   ALFRED   dbSNP

Locus:   ALFRED   OMIM   Entrez Gene

View allele frequencies     
rs16891982    SLC45A2    C/G SNP (Leu374Phe)   Skin Color
C/G SNP in exon 5 of the SLC45A2 gene resulting in the non-synonymous substitution of Leucine (TTG) -> Phenylalanine (TTC) at aminoacid position 374 of the gene.

Allele C=Phe, is associated with light skin color and is common only in populations of European ancestry.

References
Site:   ALFRED   dbSNP

Locus:   ALFRED   OMIM   Entrez Gene

View allele frequencies     
rs3827760    EDAR    C/T SNP (Val370Ala)   Hair thickness
C\T SNP in the coding region of EDAR gene resulting in the non-synonymous substitution of Valine (GTT) -> Alanine (GCT) at aminoacid position 370 of the gene.

1540C allele has been reported to be associated with Asian-specific hair thickness.

References
Site:   ALFRED   dbSNP

Locus:   ALFRED   OMIM   Entrez Gene

View allele frequencies     
3-site haplotype (rs713598,rs1726866,rs10246939)    TAS2R38 / PTC    Taster/nontaster haplotype
3 SNPs (SI000882S  ,  SI001020D  ,  SI000883T) haplotype within the TAS2R38 / PTC gene, all of which result in amino acid changes in the protein.

Named in the order of the 3 SNPs, the nontaster haplotype is AVI and the haplotype PAV the taster. The presumed recombinant taster haplotype AAV has been reported to be seen at a frequency 3% among Europeans.

References
Site:   ALFRED   

Locus:   ALFRED   OMIM   Entrez Gene

View allele frequencies     

© 2018 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