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: rs267607079
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397507501
rs397507501
PTPN11
0.882 0.160 12 112446385 missense variant A/G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397507517
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397507545
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs397517150
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs727503109
rs727503109
KRAS
0.752 0.320 12 25245277 missense variant T/C snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs730882205
rs730882205
ZNF526
1.000 0.040 19 42224882 missense variant A/C snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs80338701
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0