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: rs879255280
0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.810 1.000 3 2014 2020