rs267607079, SOS1

N. diseases: 13
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 4
CUI: C1853120
Disease: Noonan Syndrome 4
30 0.776 0.240 2 39022772 missense variant C/A;G snv 0.800 1.000 9 2007 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 1.000 3 2007 2010
Abnormality of lateral ventricle
CUI: C4022662
Disease: Abnormality of lateral ventricle
2 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Fibromatosis, Gingival, Type 1
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
9 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Pre-Eclampsia
CUI: C0032914
Disease: Pre-Eclampsia
14 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Pulmonary artery stenosis
CUI: C0238397
Disease: Pulmonary artery stenosis
2 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0