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: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.700 0
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C 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: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs80338796
rs80338796 		0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.700 0
dbSNP: rs80338798
rs80338798 		0.925 0.160 3 12585761 missense variant C/T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs80338799
rs80338799 		0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886039607
rs886039607 		0.925 0.160 3 12608842 missense variant C/G 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 0.700 0
dbSNP: rs886039607
rs886039607 		0.925 0.160 3 12608842 missense variant C/G 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 0.700 0
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: 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: rs1057519815
rs1057519815 		1.000 0.040 3 12599696 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs11713601
rs11713601 		3 12620618 intron variant G/A snv 0.59
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1553609795
rs1553609795 		1.000 3 12584584 missense variant T/C snv
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.700 1.000 1 2014 2014
dbSNP: rs3729931
rs3729931 		3 12585017 intron variant G/A snv 0.35 0.43
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3729931
rs3729931 		3 12585017 intron variant G/A snv 0.35 0.43
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs397516815
rs397516815 		0.925 0.160 3 12585760 missense variant T/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 1 2007 2007
dbSNP: rs397516826
rs397516826 		0.925 0.160 3 12604202 missense variant C/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 1.000 1 2007 2007
dbSNP: rs397516830
rs397516830 		0.827 0.160 3 12604182 missense variant A/C;G;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012