rs371314838, SOS1

N. diseases: 2
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 0.925 0.160 2 39022938 missense variant C/T snv 5.6E-05 3.5E-05 0.700 1.000 8 2007 2011
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.925 0.160 2 39022938 missense variant C/T snv 5.6E-05 3.5E-05 0.010 1.000 1 2010 2010