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: rs61746197
rs61746197
0.925 0.120 1 145919695 non coding transcript exon variant T/C snv 5.6E-03 5.0E-03
Thrombocytopenia-Absent Radius Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 0