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: rs267607048
rs267607048
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.750 1.000 6 2009 2019
dbSNP: rs267606990
rs267606990
0.851 0.240 12 112419116 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 4 2003 2014
dbSNP: rs397507501
rs397507501
0.882 0.160 12 112446385 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 8 2002 2013
dbSNP: rs397507503
rs397507503
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: rs397507504
rs397507504
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: rs397507505
rs397507505
0.827 0.240 12 112450352 missense variant A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 17 2003 2015
dbSNP: rs397507506
rs397507506
0.807 0.240 12 112450354 missense variant C/A;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2003 2013
dbSNP: rs397507507
rs397507507
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: rs397507509
rs397507509
0.807 0.240 12 112450359 missense variant G/C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 14 2002 2014
dbSNP: rs397507510
rs397507510
0.776 0.280 12 112450361 missense variant G/A;C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 7 2002 2014
dbSNP: rs121918461
rs121918461
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.720 1.000 26 2001 2018
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 8 2002 2012
dbSNP: rs121918459
rs121918459
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.720 0.923 13 2001 2013
dbSNP: rs397507511
rs397507511
0.882 0.240 12 112450385 missense variant G/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 4 2003 2013
dbSNP: rs727503380
rs727503380
0.925 0.160 12 112450386 missense variant A/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 6 2004 2017
dbSNP: rs397516801
rs397516801
0.925 0.160 12 112450389 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 1 2017 2017
dbSNP: rs397507512
rs397507512
0.925 0.160 12 112450391 missense variant T/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2003 2008
dbSNP: rs121918453
rs121918453
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 18 2002 2009
dbSNP: rs121918454
rs121918454
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 7 2001 2014
dbSNP: rs397516802
rs397516802
1.000 0.160 12 112450397 missense variant AC/CT mnv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2003 2012
dbSNP: rs121918462
rs121918462
0.742 0.320 12 112450398 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.740 1.000 21 2002 2015
dbSNP: rs397507514
rs397507514
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 9 2001 2011
dbSNP: rs397516803
rs397516803
1.000 0.160 12 112450415 missense variant C/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 3 2003 2012
dbSNP: rs121918466
rs121918466
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.730 1.000 11 2001 2009
dbSNP: rs397507517
rs397507517
0.827 0.160 12 112450497 missense variant A/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 9 2002 2011