essentialmedgen.com
Home            Mutations and SNPs

Mutations and single nucleotide polymorphisms (SNPs)

Based atthe Institute of Medical Genetics inCardiff, Wales.
Based at Manchester National Genetics Reference Laboratory.
Breast cancer Information Core database (BIC)

Requires a password. Infrequently updated but contains large dataset.

InSiGHT

International Society for Gastrointestinal Hereditary Tumours

Requires a password.

Human Genome Variation Society

Provides guidelines for the correct naming of mutations.

Produced by the Clinical Molecular Genetics Society (CMGS). Select Best Practice Guidelines, then Unclassified Variants.
dbSNP

NCBI single nucleotide polymorphism (SNP) database

Databasecontaining enormous quantity of information relating toSNPs, haplotypes and regions of linkage disequilibrium (LD).
Contains large quantities of SNP-related data for each gene. Type in the gene name; scroll down until the SNP section; select "show all" and read the SNP allele frequencies etc

For more details regarding these databases and a user's guide on how to make the most efficient use of these databases, see Part 3 of Essential Medical Genetics 6th Edition