Source: ALL
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: 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
dbSNP: rs761784169
rs761784169 		0.882 0.200 12 21805251 frameshift variant -/A ins 4.0E-06; 4.0E-06; 5.4E-04
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		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: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555100687
rs1555100687 		1.000 0.080 12 21882764 splice donor variant A/G snv
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1565477732
rs1565477732 		12 21912871 splice donor variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555179320
rs1555179320 		0.925 0.040 12 21817283 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1999 2013
dbSNP: rs1555179320
rs1555179320 		0.925 0.040 12 21817283 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 1999 2013
dbSNP: rs1555179320
rs1555179320 		0.925 0.040 12 21817283 missense variant C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 8 1999 2013
dbSNP: rs387907209
rs387907209 		0.925 0.200 12 21842326 missense variant C/G;T snv 4.0E-06
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		Cardiovascular Diseases 0.700 1.000 4 2012 2017
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: 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: 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: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		Cardiovascular Diseases 0.700 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: rs1057516044
rs1057516044 		0.851 0.240 12 21913005 missense variant A/G snv
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 1.000 1 2016 2016
dbSNP: rs1057516044
rs1057516044 		0.851 0.240 12 21913005 missense variant A/G snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
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: rs1057516044
rs1057516044 		0.851 0.240 12 21913005 missense variant A/G snv
CUI: C0024433
Disease: Macrostomia
Macrostomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057516044
rs1057516044 		0.851 0.240 12 21913005 missense variant A/G snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 1.000 1 2016 2016
dbSNP: rs1057516044
rs1057516044 		0.851 0.240 12 21913005 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2016 2016