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: rs751163782
rs751163782
5 0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
dbSNP: rs113106943
rs113106943
2 0.925 0.040 1 94021848 missense variant C/T snv 2.4E-03 2.3E-03 0.700 1.000 1 2013 2013
dbSNP: rs117522010
rs117522010
2 0.925 0.120 2 98396575 missense variant G/A;T snv 1.6E-05 0.700 1.000 1 2008 2008
dbSNP: rs137853921
rs137853921
1 1.000 0.040 2 169493769 missense variant A/G snv 4.2E-03 3.7E-03 0.700 1.000 1 2004 2004
dbSNP: rs41292677
rs41292677
3 0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03 0.700 1.000 1 1997 1997
dbSNP: rs61749668
rs61749668
1 1.000 0.040 17 8003354 missense variant G/A snv 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs61753046
rs61753046
2 0.925 0.040 1 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1057515576
rs1057515576
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs121909398
rs121909398
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 0
dbSNP: rs1238632042
rs1238632042
1 1.000 0.040 2 169492899 missense variant C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1271498710
rs1271498710
1 1.000 0.040 1 9975747 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs140451304
rs140451304
3 0.882 0.120 21 44333188 missense variant C/G;T snv 3.1E-04; 8.2E-06 0.700 0
dbSNP: rs1432600424
rs1432600424
3 0.882 0.120 2 96799118 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs146195955
rs146195955
2 0.925 0.120 2 98396137 missense variant G/C snv 7.6E-05 3.2E-04 0.700 0
dbSNP: rs147030232
rs147030232
8 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs1568725951
rs1568725951
1 1.000 0.040 20 25320294 stop gained C/T snv 0.700 0
dbSNP: rs398124401
rs398124401
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs531851447
rs531851447
1 1.000 0.040 11 67458392 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs606231180
rs606231180
3 0.925 0.080 X 38285902 frameshift variant CC/- delins 0.700 0
dbSNP: rs61750172
rs61750172
8 0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs61750173
rs61750173
6 0.827 0.080 17 8014701 missense variant G/A snv 0.700 0
dbSNP: rs61755783
rs61755783
11 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs753994107
rs753994107
3 0.925 0.080 2 181603835 splice donor variant A/C;T snv 0.700 0
dbSNP: rs952193754
rs952193754
1 1.000 0.040 17 8003273 inframe deletion GCCGCCGCCCGCCTG/- delins 2.1E-05 0.700 0