Gene: EFHC1

Alternate names for this Gene: EJM1|POC9|RIB72|dJ304B14.2

Gene Summary: This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.2

Description of this Gene: EF-hand domain containing 1

Type of Gene: protein-coding

Gene: PAQR8

Alternate names for this Gene: C6orf33|LMPB1|MPRB

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.2

Description of this Gene: progestin and adipoQ receptor family member 8

Type of Gene: protein-coding

rs182429465 in EFHC1;PAQR8 gene and Interleukin 7 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs2078064 in EFHC1;PAQR8 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.