rs397517174, SOS1

N. diseases: 3
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.160 2 39054822 missense variant A/C;G snv 0.700 1.000 21 2002 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.160 2 39054822 missense variant A/C;G snv 0.700 1.000 21 2002 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.925 0.160 2 39054822 missense variant A/C;G snv 0.700 0