Description

This track shows the allelic variants in the Online Mendelian Inheritance in Man (OMIM) database that have associated dbSNP identifiers.

Note: The latest OMIM annotation contains many SNPs found only in dbSNP build 132, which is available only for the GRCh37/hg19 assembly. This (hg18) track was built with dbSNP build 130 annotations and is therefore missing many entries. We srongly encourage users to use the GRCh37/hg19 OMIM Allelic Variant SNPs track instead of this one if possible.

Display Conventions and Configuration

Genomic positions of OMIM allelic variant SNPs are marked by solid blocks, which appear as tick marks when zoomed out.

The details page for each variant displays the allelic variant description, the amino acid replacement, and the dbSNP identifier, with a link to that SNP's details page in the "SNPs (130)" track.

The descriptions of OMIM entries are shown on the main browser display when Full display mode is chosen. In Pack mode, the descriptions are shown when mousing over each entry.

Methods

This track was constructed as follows:

• The OMIM allelic variant data file mimAV.txt was obtained from OMIM and loaded into the MySQL table omimAv.
• The genomic position for each allelic variant SNP in omimAv with an associated dbSnp identifier was obtained from the snp130 table. The OMIM AV identifiers and their corresponding genomic positions from dbSNP were then loaded into the omimAvSnp table.

Credits

Thanks to OMIM and NCBI for the use of their data. This track was constructed by Fan Hsu, Robert Kuhn, and Brooke Rhead of the UCSC Genome Bioinformatics Group.

References

Amberger J, Bocchini CA, Scott AF, Hamosh A. McKusick's Online Mendelian Inheritance in Man (OMIM®). Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. Epub 2008 Oct 8.

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7.