rs397517149, 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 0.851 0.200 2 39022786 missense variant T/G snv 0.800 1.000 8 2007 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.200 2 39022786 missense variant T/G snv 0.700 1.000 21 2002 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.200 2 39022786 missense variant T/G snv 0.700 1.000 5 2007 2018
Fibromatosis, Gingival, Type 1
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
9 0.851 0.200 2 39022786 missense variant T/G snv 0.700 0