SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Arthrogryposis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607038
rs267607038 		0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020