Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606706
rs267606706
CBL
9 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs387906664
rs387906664
CBL
2 1.000 11 119278220 missense variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs757874631
rs757874631
CBL
4 0.882 0.120 11 119278211 missense variant T/A;C snv 0.010 1.000 1 2012 2012