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: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.780 0.909 11 2000 2019
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.780 1.000 9 1995 2020
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.770 1.000 9 2012 2020
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.760 0.857 7 1999 2019
dbSNP: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.740 1.000 6 2006 2018
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 2 2014 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.971 34 2003 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.966 29 2003 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.966 29 2003 2018
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.100 0.947 19 2007 2020
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.875 16 2001 2020
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.100 0.900 10 2014 2019
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.060 0.833 6 2010 2019
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.050 1.000 5 2001 2013
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.040 1.000 4 2005 2017
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.040 1.000 4 2008 2019
dbSNP: rs750893877
rs750893877
7 0.807 0.320 17 7674258 synonymous variant G/A snv 8.0E-06 0.030 1.000 3 2016 2017
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.020 1.000 2 2007 2019
dbSNP: rs1057519992
rs1057519992
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.020 1.000 2 1991 2008
dbSNP: rs1064795841
rs1064795841
4 0.882 0.080 17 7674971 missense variant C/T snv 0.020 1.000 2 2013 2015
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs371409680
rs371409680
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.020 1.000 2 2002 2005
dbSNP: rs587780073
rs587780073
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.020 1.000 2 2008 2019
dbSNP: rs730882002
rs730882002
6 0.925 0.040 17 7674956 missense variant T/C snv 0.020 1.000 2 2017 2017
dbSNP: rs779196500
rs779196500
5 0.882 0.120 17 7675187 missense variant G/A snv 4.0E-06 0.020 1.000 2 2017 2017