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: rs121434594
rs121434594 		0.827 0.160 3 12604189 missense variant G/A;C;T snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2007 2010
dbSNP: rs397516827
rs397516827 		0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2007 2010
dbSNP: rs397516828
rs397516828 		0.925 0.160 3 12604188 missense variant G/A;C snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2007 2010
dbSNP: rs397516830
rs397516830 		0.827 0.160 3 12604182 missense variant A/C;G;T snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2007 2010
dbSNP: rs80338797
rs80338797 		0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2007 2010
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 3 2007 2010
dbSNP: rs80338799
rs80338799 		0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 3 2007 2010
dbSNP: rs2290159
rs2290159 		3 12587421 non coding transcript exon variant G/C snv 0.23
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2010 2013
dbSNP: rs587777586
rs587777586 		1.000 3 12584653 missense variant A/G snv
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.800 1.000 1 2014 2014
dbSNP: rs587777587
rs587777587 		1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.800 1.000 1 2014 2014
dbSNP: rs587777588
rs587777588 		1.000 3 12604261 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.800 1.000 1 2014 2014
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 1 2007 2007
dbSNP: rs80338797
rs80338797 		0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 1 2007 2007
dbSNP: rs80338797
rs80338797 		0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 8 2007 2018
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.710 1.000 3 2007 2016
dbSNP: rs397516813
rs397516813 		0.925 0.160 3 12599717 missense variant C/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 0.710 1.000 1 2018 2018
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 15 2006 2016
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 2006 2016
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 15 2006 2016
dbSNP: rs80338797
rs80338797 		0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 2006 2016
dbSNP: rs80338797
rs80338797 		0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 15 2006 2016
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
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 1.000 10 1992 2018
dbSNP: rs121434594
rs121434594 		0.827 0.160 3 12604189 missense variant G/A;C;T 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 1.000 6 2007 2013
dbSNP: rs3730271
rs3730271 		1.000 0.160 3 12604195 missense variant A/C;G;T 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 1.000 6 2003 2014
dbSNP: rs397516828
rs397516828 		0.925 0.160 3 12604188 missense variant G/A;C 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 1.000 5 2007 2015