rs397507547, PTPN11

N. diseases: 14
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 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.800 1.000 18 2001 2019
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 20 1968 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 7 2002 2008
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
21 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 2 2001 2005
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
7 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 2 2001 2005
Multiple nevi
CUI: C0700199
Disease: Multiple nevi
1 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 2 2001 2005
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0