Disease: Noonan Syndrome 1 ×
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: rs397507501
rs397507501 		0.882 0.160 12 112446385 missense variant A/G snv
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 0.800 1.000 2 2010 2014
dbSNP: rs397507506
rs397507506 		0.807 0.240 12 112450354 missense variant C/A;G snv
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 0.800 1.000 2 2010 2014
dbSNP: rs397507509
rs397507509 		0.807 0.240 12 112450359 missense variant G/C;T snv
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 0.800 1.000 2 2010 2014
dbSNP: rs397507511
rs397507511 		0.882 0.240 12 112450385 missense variant G/A;C snv
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 1.000 17 2001 2017
dbSNP: rs397507525
rs397507525 		0.925 0.160 12 112472968 missense variant C/T snv 7.0E-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 1.000 17 2001 2017
dbSNP: rs397507526
rs397507526 		1.000 0.160 12 112472972 missense variant T/A;G snv
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 1.000 17 2001 2017
dbSNP: rs397507529
rs397507529 		0.851 0.160 12 112473031 missense variant A/G snv 7.0E-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 1.000 17 2001 2017
dbSNP: rs397507543
rs397507543 		0.925 0.160 12 112489078 missense variant G/A snv
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 1.000 17 2001 2017
dbSNP: rs201787206
rs201787206 		1.000 0.160 12 112477722 missense variant A/G snv 5.0E-04 2.5E-04
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 1.000 15 2001 2017
dbSNP: rs397516797
rs397516797 		1.000 0.160 12 112502222 missense variant C/T snv 4.0E-05 7.0E-05
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 1.000 15 2001 2017
dbSNP: rs886043790
rs886043790 		1.000 0.160 12 112450355 missense variant A/G snv 4.0E-06 7.0E-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 1.000 15 2001 2017
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-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 1.000 5 2002 2017
dbSNP: rs121918464
rs121918464 		0.708 0.440 12 112450406 missense variant G/A;C snv
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: rs121918470
rs121918470 		0.790 0.160 12 112489105 missense variant A/C;G 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: rs397507504
rs397507504 		0.925 0.160 12 112450346 missense variant A/G snv 7.0E-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: rs397507505
rs397507505 		0.827 0.240 12 112450352 missense variant A/C;G;T snv
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: rs397507524
rs397507524 		1.000 0.160 12 112472949 inframe insertion ACA/-;ACAACA delins
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: rs397507540
rs397507540 		0.851 0.160 12 112489048 missense variant C/A;T snv
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: rs397507541
rs397507541 		0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-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: rs397507542
rs397507542 		0.790 0.320 12 112489069 missense variant G/T snv
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: rs397516801
rs397516801 		0.925 0.160 12 112450389 missense variant A/G snv
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: rs765642157
rs765642157 		1.000 0.160 12 112472969 missense variant T/A;G 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: rs80338836
rs80338836 		1.000 0.160 12 112450357 inframe deletion GTG/- delins
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: rs869025574
rs869025574 		1.000 0.160 12 112450360 inframe deletion GAT/- delins
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