Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338799
rs80338799
RAF1
0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010