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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2007 2013
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2007 2013
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1057519943
rs1057519943
10 0.790 0.160 12 132676598 missense variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519945
rs1057519945
12 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10795763
rs10795763
2 0.925 0.120 10 6054236 intron variant G/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs11256497
rs11256497
2 0.925 0.120 10 6045831 intron variant G/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs13405728
rs13405728
8 0.790 0.200 2 48751020 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2476491
rs2476491
8 0.776 0.240 10 6053447 intron variant A/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs2479106
rs2479106
4 0.851 0.120 9 123762933 intron variant A/G snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs791587
rs791587
2 0.925 0.120 10 6046736 intron variant A/G snv 0.51 0.010 1.000 1 2014 2014