Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2272515
rs2272515
0.010 GeneticVariation BEFREE Variant rs2272515 was found to significantly correlate (p < 0.05) with kyphoscoliosis. 30722102

2019

dbSNP: rs140291094
rs140291094
0.010 GeneticVariation BEFREE Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491

2017