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: rs606231263
rs606231263
1.000 0.200 12 21773424 missense variant C/T snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.720 0.500 2 2013 2018
dbSNP: rs606231264
rs606231264
1.000 0.200 12 21766472 missense variant A/T snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0