Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833531
rs386833531
GLDC
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs386833531
rs386833531
GLDC
A 0.700 GeneticVariation CLINVAR Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. 17361008

2007
dbSNP: rs386833531
rs386833531
GLDC
A 0.700 GeneticVariation CLINVAR Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. 16450403

2006
dbSNP: rs386833531
rs386833531
GLDC
A 0.700 CausalMutation CLINVAR