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: rs3730271
rs3730271
1.000 0.160 3 12604195 missense variant A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 6 2003 2014
dbSNP: rs397516829
rs397516829
1.000 0.160 3 12604184 missense variant A/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 2 2002 2010
dbSNP: rs1057519815
rs1057519815
1.000 0.040 3 12599696 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2013 2013
dbSNP: rs869025501
rs869025501
1.000 0.080 3 12604191 missense variant G/A snv
Cardiomyopathy, Hypertrophic, Familial
0.700 1.000 1 2007 2007
dbSNP: rs397516822
rs397516822
1.000 0.160 3 12608823 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 0
dbSNP: rs397516825
rs397516825
1.000 0.160 3 12604204 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 0
dbSNP: rs587777586
rs587777586
1.000 3 12584653 missense variant A/G snv
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN
0.800 1.000 0 2014 2014
dbSNP: rs587777587
rs587777587
1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN
0.800 1.000 0 2014 2014
dbSNP: rs587777587
rs587777587
1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0
dbSNP: rs587777588
rs587777588
1.000 3 12604261 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN
0.800 1.000 0 2014 2014
dbSNP: rs587782971
rs587782971
1.000 0.160 3 12608895 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 0
dbSNP: rs587782972
rs587782972
1.000 0.160 3 12591729 missense variant C/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 0
dbSNP: rs727503384
rs727503384
1.000 0.160 3 12611985 missense variant G/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 0
dbSNP: rs730881003
rs730881003
1.000 0.160 3 12585794 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 0
dbSNP: rs397516828
rs397516828
0.925 0.160 3 12604188 missense variant G/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2007 2015
dbSNP: rs397516815
rs397516815
0.925 0.160 3 12585760 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 1 2007 2007
dbSNP: rs397516826
rs397516826
0.925 0.160 3 12604202 missense variant C/A;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 1 2007 2007
dbSNP: rs397516813
rs397516813
0.925 0.160 3 12599717 missense variant C/G snv
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 0
dbSNP: rs397516813
rs397516813
0.925 0.160 3 12599717 missense variant C/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 0 2018 2018
dbSNP: rs397516828
rs397516828
0.925 0.160 3 12604188 missense variant G/A;C snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5
0.800 1.000 0 2007 2010
dbSNP: rs80338798
rs80338798
0.925 0.160 3 12585761 missense variant C/T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.700 0
dbSNP: rs886039607
rs886039607
0.925 0.160 3 12608842 missense variant C/G snv
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 0
dbSNP: rs886039607
rs886039607
0.925 0.160 3 12608842 missense variant C/G snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5
0.700 0
dbSNP: rs727505017
rs727505017
0.882 0.200 3 12604201 missense variant A/G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 3 2002 2007
dbSNP: rs80338799
rs80338799
0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 3 2007 2007