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: rs1057519732
rs1057519732 		0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121908596
rs121908596 		0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs397516791
rs397516791 		1.000 0.160 15 66435221 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs730880508
rs730880508 		1.000 15 66436837 missense variant GC/TT mnv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs876657651
rs876657651 		0.882 0.160 15 66436818 missense variant A/G snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs876657651
rs876657651 		0.882 0.160 15 66436818 missense variant A/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs876657651
rs876657651 		0.882 0.160 15 66436818 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121908594
rs121908594 		0.925 0.160 15 66435104 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs727504317
rs727504317 		0.807 0.320 15 66435145 missense variant G/A snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 1.000 1 2007 2007
dbSNP: rs121908594
rs121908594 		0.925 0.160 15 66435104 missense variant T/C snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.800 1.000 2 2006 2008
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.800 1.000 2 2006 2008
dbSNP: rs121908596
rs121908596 		0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C0024421
Disease: Macroglossia
Macroglossia 		Stomatognathic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs121908596
rs121908596 		0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C0424492
Disease: Coarse features
Coarse features 		0.700 1.000 1 2008 2008
dbSNP: rs121908596
rs121908596 		0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs121908596
rs121908596 		0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs121908596
rs121908596 		0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs869025608
rs869025608 		0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs869025608
rs869025608 		0.763 0.400 15 66435117 missense variant G/C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2008 2008
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		Musculoskeletal Diseases 0.700 1.000 7 2006 2009
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 1.000 7 2006 2009
dbSNP: rs1057519730
rs1057519730 		1.000 0.040 15 66436786 missense variant T/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs1057519819
rs1057519819 		0.851 0.240 15 66436750 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2009 2009