rs397517156, 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
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.200 2 39012333 missense variant T/A snv 0.700 1.000 1 2010 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.200 2 39012333 missense variant T/A snv 0.700 0
Lymphangioma, Cystic
CUI: C0206620
Disease: Lymphangioma, Cystic
1 0.851 0.200 2 39012333 missense variant T/A snv 0.700 0
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
30 0.851 0.200 2 39012333 missense variant T/A snv 0.700 0