rs397507501, 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 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.882 0.160 12 112446385 missense variant A/G snv 0.800 1.000 2 2010 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.882 0.160 12 112446385 missense variant A/G snv 0.710 1.000 9 2002 2013
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.882 0.160 12 112446385 missense variant A/G snv 0.700 0
Low-set nipples
CUI: C1836933
Disease: Low-set nipples
2 0.882 0.160 12 112446385 missense variant A/G snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.882 0.160 12 112446385 missense variant A/G snv 0.700 0