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: rs1057518972
rs1057518972
0.827 0.200 8 115418359 missense variant C/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0