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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 18 2011 2019
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.020 1.000 2 2015 2017
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.020 0.500 2 2018 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs139236063
rs139236063
3 0.925 0.080 7 55165350 missense variant G/C;T snv 0.700 1.000 2 2006 2016
dbSNP: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.700 1.000 2 2006 2016
dbSNP: rs1872328
rs1872328
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.020 1.000 2 2015 2016
dbSNP: rs2243115
rs2243115
12 0.776 0.320 3 159988493 intron variant T/G snv 0.10 0.020 1.000 2 2012 2017
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.020 1.000 2 2015 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2009
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519828
rs1057519828
1 7 55143387 missense variant G/A snv 0.700 1.000 1 2006 2006
dbSNP: rs1057519841
rs1057519841
5 0.925 0.120 5 68295269 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519887
rs1057519887
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519904
rs1057519904
17 0.742 0.080 6 27872233 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519906
rs1057519906
8 0.882 0.120 15 90088607 missense variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519925
rs1057519925
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519933
rs1057519933
11 0.790 0.240 3 179199156 missense variant A/G snv 0.700 1.000 1 2016 2016