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: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs587780071
rs587780071
15 0.732 0.240 17 7674951 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs876660825
rs876660825
1 1.000 0.080 17 7674962 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs375275361
rs375275361
5 0.827 0.120 17 7675054 missense variant A/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs587782596
rs587782596
7 0.807 0.200 17 7675071 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.750 1.000 5 2011 2018
dbSNP: rs587782144
rs587782144
8 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2008 2008
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs587782705
rs587782705
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs779196500
rs779196500
5 0.882 0.120 17 7675187 missense variant G/A snv 4.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.020 1.000 2 2014 2016
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.020 1.000 2 2014 2016
dbSNP: rs786201057
rs786201057
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 0
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.833 42 2003 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 48 2003 2020
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.833 42 2003 2018
dbSNP: rs372201428
rs372201428
3 0.882 0.120 17 7676181 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 2008 2010
dbSNP: rs1237722021
rs1237722021
2 0.925 0.080 17 7676194 missense variant C/A snv 7.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs587782646
rs587782646
2 0.925 0.080 17 7676576 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2287499
rs2287499
4 0.925 0.080 17 7688850 missense variant C/G;T snv 0.20 0.010 1.000 1 2014 2014