KRAS, KRAS proto-oncogene, GTPase, 3845

N. diseases: 1213; N. variants: 54
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: rs104894365
rs104894365 		0.827 0.320 12 25245345 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 0.720 1.000 9 2006 2018
dbSNP: rs104894360
rs104894360 		0.724 0.560 12 25209904 missense variant T/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 0.720 1.000 7 2006 2008
dbSNP: rs104894364
rs104894364 		0.925 0.160 12 25227351 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 0.710 1.000 8 2006 2013
dbSNP: rs104894366
rs104894366 		0.776 0.400 12 25245284 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 0.710 1.000 5 1993 2011
dbSNP: rs727503108
rs727503108 		0.882 0.280 12 25227345 missense variant C/A 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 5 2006 2013
dbSNP: rs193929331
rs193929331 		0.925 0.160 12 25245372 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 8 2007 2014
dbSNP: rs727503110
rs727503110 		0.882 0.160 12 25245320 missense variant T/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 2002 2011
dbSNP: rs104894359
rs104894359 		0.851 0.200 12 25227346 missense variant 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 3 2006 2011
dbSNP: rs727503109
rs727503109 		0.752 0.320 12 25245277 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 3 1993 2009
dbSNP: rs397517042
rs397517042 		0.925 0.200 12 25209896 missense variant 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 2 2007 2007
dbSNP: rs104894361
rs104894361 		0.882 0.240 12 25245370 missense variant T/A;C;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 1 2007 2007
dbSNP: rs121913240
rs121913240 		0.672 0.440 12 25227342 missense variant T/A;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 1 2010 2010
dbSNP: rs397517041
rs397517041 		1.000 0.160 12 25209908 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 1 2006 2006
dbSNP: rs727504662
rs727504662 		0.925 0.160 12 25227310 missense variant T/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 1 2012 2012
dbSNP: rs104894362
rs104894362 		0.882 0.200 12 25209894 missense variant G/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 2007 2007
dbSNP: rs121913530
rs121913530 		0.583 0.640 12 25245351 missense variant C/A;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 0.010 1.000 1 2007 2007
dbSNP: rs202247812
rs202247812 		1.000 0.160 12 25225717 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 0.010 1.000 1 2012 2012