Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.030 GeneticVariation BEFREE The previously identified hyperekplexia mutation GLRA1(P250T), located within the intracellular TM1-2 loop of the GlyR alpha1 subunit, results in altered receptor activation and desensitization. 15489161

2004
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.030 GeneticVariation BEFREE Different from the dominant trait of clinical hyperekplexia associated with GLRA1 (P250T), wildtype subunits dominated the functional properties of mixed receptor complexes in the recombinant system. 12359314

2002
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.030 GeneticVariation BEFREE Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. 9920650

1999