rs397509345, 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.
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.700 1.000 10 2002 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.020 1.000 2 2011 2019
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.010 1.000 1 2003 2003
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.010 1.000 1 2012 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.010 1.000 1 2012 2012