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: rs1555621138
rs1555621138
0.925 0.200 18 10671603 inframe deletion TCT/- delins
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0