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: rs397517149
rs397517149
SOS1
0.851 0.200 2 39022786 missense variant T/G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 1.000 0 2007 2011