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: rs587780072
rs587780072
3 0.882 0.240 17 7674927 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs587780728
rs587780728
1 1.000 0.120 17 7676224 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs730882028
rs730882028
3 1.000 0.120 17 7670709 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766786605
rs766786605
2 1.000 0.120 17 7670643 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs770374782
rs770374782
6 0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05 0.020 1.000 2 2009 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2010 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2010 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 1.000 4 2010 2016
dbSNP: rs121912653
rs121912653
2 0.925 0.120 17 7674208 missense variant A/G snv 0.700 1.000 18 1990 2017
dbSNP: rs121912655
rs121912655
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.700 1.000 18 1989 2017
dbSNP: rs121912657
rs121912657
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 18 1990 2017
dbSNP: rs28934873
rs28934873
3 0.925 0.120 17 7675214 start lost A/G snv 0.700 1.000 18 1990 2017
dbSNP: rs587780075
rs587780075
2 1.000 0.120 17 7673820 missense variant C/G;T snv 1.2E-05 0.700 1.000 18 1990 2017
dbSNP: rs1057519985
rs1057519985
16 0.724 0.360 17 7673763 missense variant T/A;C;G snv 0.700 1.000 11 1990 2014
dbSNP: rs11540654
rs11540654
4 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 11 1997 2014
dbSNP: rs121912659
rs121912659
4 0.882 0.160 17 7673554 missense variant C/A;T snv 4.0E-06 7.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs149633775
rs149633775
2 1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs1555525012
rs1555525012
3 0.882 0.200 17 7673603 missense variant G/A snv 0.700 1.000 11 1990 2014
dbSNP: rs17849781
rs17849781
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.700 1.000 11 1990 2014
dbSNP: rs28934577
rs28934577
2 1.000 0.120 17 7674193 missense variant A/C;G;T snv 0.700 1.000 11 1990 2014
dbSNP: rs483352697
rs483352697
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs534447939
rs534447939
1 1.000 0.120 17 7676124 missense variant G/A;C snv 2.0E-05 7.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs55863639
rs55863639
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 11 1992 2016
dbSNP: rs587782664
rs587782664
15 0.742 0.320 17 7674252 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 11 1990 2014