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: rs111854391
rs111854391
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0