Genome


Gencode genome annotations:

HUGO Gene Nomenclature Committee (HGNC)

1000 Genomes

APPRIS gene isoforms For version hg19 (matched to Gencode version 19) For version hg38 (matched to Gencode version 31)

HapMap II recombination hotspots

LDlink LDproxy

UCSC liftOver

Giggle

Mendelian disease genes and variants


OMIM

Orphanet Rare diseases and cross referencing

[Linearisation of disorders](<http://www.orphadata.org/data/xml/en_product7.xml>)

[Rare diseases with their associated genes](<http://www.orphadata.org/data/xml/en_product6.xml>)

Genomics England

DECIPHER

ClinVar

Gene set enrichment