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: rs121913478
rs121913478
0.756 0.321 10 121515280 missense variant T/C snp
Cutis Gyrata Syndrome of Beare And Stevenson
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.810 1.000 5 1996 2007
dbSNP: rs121913477
rs121913477
1.000 0.107 10 121515289 missense variant G/C,T snp
Cutis Gyrata Syndrome of Beare And Stevenson
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.810 1.000 2 1996 2008