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: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.020 1.000 2 2006 2014
dbSNP: rs28934573
rs28934573
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs876658468
rs876658468
24 0.689 0.440 17 7674954 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 < 0.001 1 2008 2008
dbSNP: rs750600586
rs750600586
3 17 7675199 missense variant G/A;T snv 0.010 1.000 1 1993 1993
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.933 45 2002 2019
dbSNP: rs876660829
rs876660829
2 17 7673598 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 1993 1993
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.923 39 2002 2019
dbSNP: rs942158624
rs942158624
19 0.724 0.320 17 7674948 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1800372
rs1800372
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs758781593
rs758781593
2 17 7675204 missense variant T/A;C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs867114783
rs867114783
6 17 7675109 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.030 1.000 3 2010 2019
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.030 1.000 3 2013 2016