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: rs11617740
rs11617740
2 1.000 0.040 13 102027776 intron variant G/A snv 5.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs2839440
rs2839440
2 1.000 0.040 21 42023389 intron variant C/T snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs7322722
rs7322722
2 1.000 0.040 13 77305241 intron variant G/A snv 0.16 0.800 1.000 1 2013 2013
dbSNP: rs12711941
rs12711941
1 2 120365807 intergenic variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs7576192
rs7576192
2 1.000 0.040 2 120360455 intergenic variant A/G snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs7579169
rs7579169
2 1.000 0.040 2 120360548 intergenic variant T/C snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs137854889
rs137854889
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1555727493
rs1555727493
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs1565706229
rs1565706229
18 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
dbSNP: rs267607079
rs267607079
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs587784177
rs587784177
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0