rs397507517, PTPN11

N. diseases: 8
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 0.827 0.160 12 112450497 missense variant A/C snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.827 0.160 12 112450497 missense variant A/C snv 0.700 1.000 9 2002 2011
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0