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: rs4938642
rs4938642
CBL
2 1.000 0.040 11 119229196 intron variant G/C snv 6.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs11217191
rs11217191
CBL
1 11 119223937 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs36109901
rs36109901
CBL
1 11 119212608 intron variant A/C snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs7108857
rs7108857
CBL
1 11 119206293 upstream gene variant C/G;T snv 0.700 1.000 1 2018 2018