rs869320687, SOS2

N. diseases: 2
Source: CLINVAR ×
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 9
CUI: C4225282
Disease: NOONAN SYNDROME 9
2 0.925 0.160 14 50161551 missense variant G/C snv 0.800 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
73 0.925 0.160 14 50161551 missense variant G/C snv 0.700 1.000 1 2015 2015