Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507546
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs397507546
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs397507546
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs397507546
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs397507546
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs397507518
rs397507518
PTPN11
0.925 0.160 12 112450508 missense variant G/A snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 2 2014 2014
dbSNP: rs727503381
rs727503381
PTPN11
1.000 0.160 12 112454636 missense variant A/T snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs397507530
rs397507530
PTPN11
1.000 0.160 12 112473033 missense variant C/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2013 2016
dbSNP: rs397507525
rs397507525
PTPN11
0.925 0.160 12 112472968 missense variant C/T snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2012 2012
dbSNP: rs397507503
rs397507503
PTPN11
1.000 0.160 12 112450335 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs376607329
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2011 2018
dbSNP: rs397507504
rs397507504
PTPN11
0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2011 2016
dbSNP: rs397516809
rs397516809
PTPN11
1.000 0.160 12 112472961 missense variant G/A;T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs397516807
rs397516807
PTPN11
1.000 0.120 12 112455968 frameshift variant A/- del
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 1.000 2 2010 2011
dbSNP: rs376607329
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2010 2014
dbSNP: rs397507501
rs397507501
PTPN11
0.882 0.160 12 112446385 missense variant A/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2010 2014
dbSNP: rs397507506
rs397507506
PTPN11
0.807 0.240 12 112450354 missense variant C/A;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2010 2014
dbSNP: rs397507509
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2010 2014
dbSNP: rs121918453
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 1 2009 2009
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 9 2006 2015
dbSNP: rs121918469
rs121918469
PTPN11
0.882 0.160 12 112488454 missense variant G/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2006 2009
dbSNP: rs121918469
rs121918469
PTPN11
0.882 0.160 12 112488454 missense variant G/C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 5 2006 2009
dbSNP: rs397507507
rs397507507
PTPN11
1.000 0.160 12 112450358 missense variant G/A;C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2006 2012
dbSNP: rs397507527
rs397507527
PTPN11
1.000 0.160 12 112472989 missense variant G/A;T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2006 2012
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 10 2005 2012