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: rs121918453
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918461
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918463
rs121918463
PTPN11
0.851 0.240 12 112477651 missense variant T/A;C;G snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs397507545
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0
dbSNP: rs727505381
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.700 0