Disease: Noonan Syndrome ×
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: rs727503381
rs727503381 		1.000 0.160 12 112454636 missense variant A/T snv 7.0E-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 1 2014 2014
dbSNP: rs727503380
rs727503380 		0.925 0.160 12 112450386 missense variant A/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 2004 2017
dbSNP: rs397516810
rs397516810 		0.925 0.160 12 112477652 missense variant T/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 5 2002 2009
dbSNP: rs397516809
rs397516809 		1.000 0.160 12 112472961 missense variant G/A;T 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 1 2011 2011
dbSNP: rs397516803
rs397516803 		1.000 0.160 12 112450415 missense variant C/A 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 3 2003 2012
dbSNP: rs397516802
rs397516802 		1.000 0.160 12 112450397 missense variant AC/CT mnv
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 2003 2012
dbSNP: rs397516801
rs397516801 		0.925 0.160 12 112450389 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 1.000 1 2017 2017
dbSNP: rs397509345
rs397509345 		0.851 0.160 12 112489093 missense variant AG/CC mnv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs397507549
rs397507549 		0.742 0.240 12 112489104 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 10 2005 2012
dbSNP: rs397507548
rs397507548 		0.851 0.160 12 112489093 missense variant 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 0.010 1.000 1 2012 2012
dbSNP: rs397507547
rs397507547 		0.752 0.280 12 112489086 missense variant A/G 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 7 2002 2008
dbSNP: rs397507545
rs397507545 		0.708 0.560 12 112489083 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 0.710 1.000 12 2003 2019
dbSNP: rs397507544
rs397507544 		1.000 0.160 12 112489081 missense variant 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 7 2004 2008
dbSNP: rs397507543
rs397507543 		0.925 0.160 12 112489078 missense variant G/A 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 2002 2010
dbSNP: rs397507542
rs397507542 		0.790 0.320 12 112489069 missense variant 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 4 2004 2008
dbSNP: rs397507541
rs397507541 		0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 4 2004 2014
dbSNP: rs397507540
rs397507540 		0.851 0.160 12 112489048 missense variant C/A;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 13 2004 2014
dbSNP: rs397507539
rs397507539 		0.851 0.160 12 112489047 missense variant C/A;G;T 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 0.720 1.000 8 2004 2018
dbSNP: rs397507531
rs397507531 		0.752 0.320 12 112473040 missense variant T/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 0.700 1.000 5 2002 2009
dbSNP: rs397507530
rs397507530 		1.000 0.160 12 112473033 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 0.700 1.000 2 2013 2016
dbSNP: rs397507529
rs397507529 		0.851 0.160 12 112473031 missense variant A/G snv 7.0E-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 9 2001 2011
dbSNP: rs397507527
rs397507527 		1.000 0.160 12 112472989 missense variant G/A;T 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 2 2006 2012
dbSNP: rs397507525
rs397507525 		0.925 0.160 12 112472968 missense variant C/T snv 7.0E-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 2 2012 2012
dbSNP: rs397507523
rs397507523 		0.882 0.160 12 112472954 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 1.000 6 2003 2014
dbSNP: rs397507520
rs397507520 		0.658 0.520 12 112453279 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 17 2002 2013