rs397507529, 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
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.710 1.000 9 2001 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 20 1968 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 20 1968 2016
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 9 2001 2011