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: rs375218091
rs375218091
1.000 0.080 11 47448071 missense variant C/A;T snv 1.6E-05; 8.0E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020