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: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2001 2017
dbSNP: rs397507514
rs397507514
PTPN11
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: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		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: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0