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: rs137852812
rs137852812
0.851 0.200 2 39051211 missense variant G/T snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
0.800 1.000 0 2007 2011
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
0.800 1.000 0 2007 2011
dbSNP: rs137852814
rs137852814
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
0.800 1.000 0 2007 2011
dbSNP: rs267607079
rs267607079
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
0.800 1.000 0 2007 2011
dbSNP: rs267607080
rs267607080
0.925 0.160 2 39023134 missense variant A/G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
0.800 1.000 0 2007 2011
dbSNP: rs397517149
rs397517149
0.851 0.200 2 39022786 missense variant T/G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
0.800 1.000 0 2007 2011
dbSNP: rs397517159
rs397517159
0.882 0.200 2 39007168 missense variant C/T snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4
0.800 1.000 0 2007 2011
dbSNP: rs397517150
rs397517150
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.720 1.000 1 2011 2018
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 0.875 7 2007 2014
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 21 2002 2016
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 21 2002 2016
dbSNP: rs1553354396
rs1553354396
1.000 2 39012309 missense variant A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 21 2002 2016
dbSNP: rs397517149
rs397517149
0.851 0.200 2 39022786 missense variant T/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 21 2002 2016
dbSNP: rs397517172
rs397517172
0.925 0.160 2 39056704 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 21 2002 2016
dbSNP: rs397517174
rs397517174
0.925 0.160 2 39054822 missense variant A/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 21 2002 2016
dbSNP: rs397517174
rs397517174
0.925 0.160 2 39054822 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 21 2002 2016
dbSNP: rs397517154
rs397517154
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 19 2007 2018
dbSNP: rs137852814
rs137852814
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 8 2007 2014
dbSNP: rs397517159
rs397517159
0.882 0.200 2 39007168 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 7 2007 2013
dbSNP: rs397517164
rs397517164
0.925 0.160 2 39058696 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 7 2007 2014
dbSNP: rs397517147
rs397517147
0.882 0.200 2 39023131 missense variant C/T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 6 2007 2010
dbSNP: rs137852812
rs137852812
0.851 0.200 2 39051211 missense variant G/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2007 2010
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
0.700 1.000 5 2007 2011