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: rs387907211
rs387907211
1.000 0.200 12 21908099 missense variant G/A 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 0.810 1.000 4 2012 2018
dbSNP: rs387907227
rs387907227
1.000 0.200 12 21842440 missense variant C/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 0.800 1.000 4 2012 2015
dbSNP: rs387907208
rs387907208
0.851 0.200 12 21842327 missense variant G/A;C 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 0.800 1.000 3 2012 2015
dbSNP: rs387907209
rs387907209
0.925 0.200 12 21842326 missense variant C/G;T snv 4.0E-06
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 0.800 1.000 3 2012 2015
dbSNP: rs387907210
rs387907210
1.000 0.200 12 21844884 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 0.800 1.000 3 2012 2015
dbSNP: rs387907228
rs387907228
0.925 0.200 12 21842441 missense variant G/A 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 0.800 1.000 3 2012 2015
dbSNP: rs387907229
rs387907229
1.000 0.200 12 21845641 missense variant A/G 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 0.800 1.000 3 2012 2015
dbSNP: rs387907230
rs387907230
1.000 0.200 12 21933888 missense variant G/A 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 0.800 1.000 3 2012 2015
dbSNP: rs1165205076
rs1165205076
1.000 0.200 12 21910852 missense variant C/A 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 1.000 3 2012 2015
dbSNP: rs1057516044
rs1057516044
0.851 0.240 12 21913005 missense variant A/G 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 1.000 1 2016 2016
dbSNP: rs12298510
rs12298510
1.000 0.200 12 21828977 missense variant C/G;T snv 4.0E-06
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
dbSNP: rs761784169
rs761784169
0.882 0.200 12 21805251 frameshift variant -/A ins 4.0E-06; 4.0E-06; 5.4E-04
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