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: rs587777528
rs587777528
0.851 0.320 12 121641471 missense variant C/T snv
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014