Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1430282035
rs1430282035
MYH7B
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889738
rs1555889738
GSS ; MYH7B
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. 15717202

2005
dbSNP: rs1555889738
rs1555889738
GSS ; MYH7B
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		T 0.700 CausalMutation CLINVAR Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. 14635114

2003
dbSNP: rs771172991
rs771172991
MYH7B
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR