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: rs180177034
rs180177034
0.882 0.200 7 140801536 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 5 2006 2011
dbSNP: rs180177036
rs180177036
0.925 0.200 7 140778053 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 5 2006 2008
dbSNP: rs121913348
rs121913348
0.763 0.480 7 140781617 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 0.700 1.000 4 2003 2008
dbSNP: rs121913364
rs121913364
0.641 0.520 7 140753334 missense variant T/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 4 2007 2016
dbSNP: rs121913369
rs121913369
0.790 0.280 7 140753346 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 4 2004 2012
dbSNP: rs180177038
rs180177038
0.851 0.200 7 140778007 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 4 2006 2012
dbSNP: rs397507483
rs397507483
0.790 0.400 7 140753348 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 4 2006 2009
dbSNP: rs397507484
rs397507484
0.752 0.480 7 140753333 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 3 2009 2014
dbSNP: rs387906660
rs387906660
0.790 0.280 7 140801550 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 2 2009 2014
dbSNP: rs397507469
rs397507469
0.882 0.200 7 140801503 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 1 2007 2007
dbSNP: rs397507477
rs397507477
1.000 0.160 7 140777995 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 0
dbSNP: rs397509343
rs397509343
1.000 0.160 7 140801531 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 0.700 0
dbSNP: rs397516891
rs397516891
1.000 0.160 7 140781599 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 0.700 0
dbSNP: rs397516903
rs397516903
0.925 0.200 7 140801533 missense variant 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 0
dbSNP: rs397516904
rs397516904
0.925 0.200 7 140801487 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 0
dbSNP: rs397516905
rs397516905
1.000 0.160 7 140801479 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 0
dbSNP: rs727502904
rs727502904
0.925 0.200 7 140734763 missense variant G/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 0
dbSNP: rs727504375
rs727504375
0.925 0.200 7 140778059 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 0