Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519313
rs1057519313
SLC6A9
C 0.700 CausalMutation CLINVAR Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. 27481395

2016
dbSNP: rs1057519314
rs1057519314
SLC6A9
A 0.700 CausalMutation CLINVAR Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 27773429

2016
dbSNP: rs1057519315
rs1057519315
SLC6A9
A 0.700 CausalMutation CLINVAR Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 27773429

2016
dbSNP: rs201437896
rs201437896
SLC6A9
A 0.700 CausalMutation CLINVAR