Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167445
rs1114167445
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017