Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs536639583
rs536639583
HOXD13
0.010 GeneticVariation BEFREE Severe short stature without limb deformity was associated with a p.G11A variant of HOXD13. 30541462

2018
dbSNP: rs770627276
rs770627276
SOS1
0.010 GeneticVariation BEFREE Severe short stature without limb deformity was associated with a p.G11A variant of HOXD13. 30541462

2018
dbSNP: rs137853305
rs137853305
TPM2
0.010 GeneticVariation BEFREE A novel R133W beta-tropomyosin (beta-Tm) mutation, associated with muscle weakness and distal limb deformities, has recently been identified in a woman and her daughter. 17430991

2007