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: rs137852813
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0424492
Disease: Coarse features
Coarse features 		0.700 1.000 5 2007 2011
dbSNP: rs121908596
rs121908596
MAP2K1
0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C0424492
Disease: Coarse features
Coarse features 		0.700 1.000 1 2008 2008