Gene: TMEM248

Alternate names for this Gene: C7orf42

Gene Summary:

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.21

Description of this Gene: transmembrane protein 248

Type of Gene: protein-coding

rs6971897 in TMEM248 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs4718428 in TMEM248 gene and Corneal Topography PMID 23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

rs13238478 in TMEM248 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.