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: rs121434481
rs121434481
1.000 0.080 4 174493236 missense variant A/G snv
CUI: C0345408
Disease: Hereditary clubbing
Hereditary clubbing
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2009 2009