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: rs1194008138
rs1194008138
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1361742125
rs1361742125
3 0.882 0.120 5 143399842 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1412792500
rs1412792500
3 0.882 0.120 5 143400541 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1427331568
rs1427331568
3 0.882 0.120 5 143314010 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs72481843
rs72481843
3 0.882 0.120 5 143300685 splice donor variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs768315648
rs768315648
3 0.882 0.120 5 143399830 missense variant T/C snv 1.2E-05 0.010 1.000 1 2008 2008