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: rs1445287184
rs1445287184
1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0