rs672601335, RIT1

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.
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
12 0.882 0.160 1 155904456 missense variant C/G snv 0.800 1.000 10 1987 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.882 0.160 1 155904456 missense variant C/G snv 0.700 1.000 4 2013 2014
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.882 0.160 1 155904456 missense variant C/G snv 0.700 0