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: rs121434358
rs121434358
0.882 0.240 19 8605638 missense variant C/T snv 3.2E-05 2.1E-04
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008