Source: UNIPROT

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: rs397507510
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.810 1.000 3 2003 2017
dbSNP: rs397507510
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 17 2001 2017