rs397517159, SOS1

N. diseases: 4
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 0.882 0.200 2 39007168 missense variant C/T snv 0.800 1.000 9 2007 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.882 0.200 2 39007168 missense variant C/T snv 0.700 1.000 7 2007 2013
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.882 0.200 2 39007168 missense variant C/T snv 0.700 1.000 3 2007 2007
Fibromatosis, Gingival, Type 1
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
9 0.882 0.200 2 39007168 missense variant C/T snv 0.700 0