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: rs17824933
rs17824933
CD6
1 1.000 0.080 11 60993140 intron variant C/A;G snv 0.850 1.000 7 2009 2016
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.010 1.000 1 2013 2013
dbSNP: rs112852289
rs112852289
1 1.000 0.080 11 61008833 frameshift variant -/T ins 5.1E-06; 5.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs2074225
rs2074225
1 1.000 0.080 11 61008834 missense variant C/T snv 0.53 0.58 0.010 1.000 1 2013 2013
dbSNP: rs386754116
rs386754116
1 1.000 0.080 11 61008834 missense variant CG/TC mnv 0.010 1.000 1 2013 2013