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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2019
dbSNP: rs55705857
rs55705857
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 15 2012 2019
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.040 1.000 4 2013 2019
dbSNP: rs121913503
rs121913503
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.020 1.000 2 2011 2014
dbSNP: rs2296212
rs2296212
5 0.827 0.080 9 2191309 missense variant C/G snv 0.17 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1035938
rs1035938
8 0.776 0.120 19 47680514 missense variant C/G;T snv 0.29 0.010 1.000 1 2005 2005
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.060 1.000 6 2013 2017
dbSNP: rs11672232
rs11672232
4 0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2013 2013
dbSNP: rs4741651
rs4741651
4 0.851 0.040 9 2194030 downstream gene variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2019
dbSNP: rs1034749666
rs1034749666
9 0.776 0.160 21 33027257 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1052555
rs1052555
3 0.882 0.040 19 45352266 synonymous variant G/A snv 0.28 0.26 0.010 1.000 1 2005 2005
dbSNP: rs12232780
rs12232780
6 0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs483352909
rs483352909
11 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs11133391
rs11133391
4 0.851 0.040 4 55501788 intron variant T/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs587777627
rs587777627
7 0.807 0.080 19 50406444 missense variant T/C snv 0.010 1.000 1 2016 2016