Disease: Noonan Syndrome 5 ×
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: rs1448392469
rs1448392469 		1.000 0.160 3 12584627 missense variant A/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 0.700 1.000 3 2007 2010
dbSNP: rs397516815
rs397516815 		0.925 0.160 3 12585760 missense variant T/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 0.700 1.000 3 2007 2010
dbSNP: rs397516826
rs397516826 		0.925 0.160 3 12604202 missense variant C/A;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 1.000 3 2007 2010
dbSNP: rs80338798
rs80338798 		0.925 0.160 3 12585761 missense variant 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 0.700 1.000 3 2007 2010
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