rs397507505, PTPN11

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.710 1.000 17 2003 2015
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0