rs869025193, RIT1

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 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
12 0.925 0.160 1 155904498 missense variant T/C snv 0.800 1.000 3 2013 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.925 0.160 1 155904498 missense variant T/C snv 0.700 1.000 3 2013 2016