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: rs72645347
rs72645347
10 0.790 0.280 17 50196337 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1555574303
rs1555574303
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
dbSNP: rs66490707
rs66490707
7 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
dbSNP: rs66555264
rs66555264
7 0.790 0.240 17 50192993 splice donor variant C/A;T snv 0.700 0
dbSNP: rs67879854
rs67879854
7 0.790 0.240 17 50190578 missense variant C/A;T snv 0.700 0
dbSNP: rs72645357
rs72645357
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
dbSNP: rs72648326
rs72648326
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 0
dbSNP: rs72651642
rs72651642
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs72653170
rs72653170
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.850 1.000 6 2005 2014
dbSNP: rs778598915
rs778598915
1 1.000 0.080 22 42693910 synonymous variant G/A;T snv 2.2E-05 0.700 0