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: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017