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: rs17880560
rs17880560
2 17 7668169 intron variant -/TGGCCG delins 0.010 1.000 1 2014 2014
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
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.941 17 2005 2018
dbSNP: rs587782529
rs587782529
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs876659384
rs876659384
7 0.851 0.240 17 7673552 stop gained C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs876660829
rs876660829
2 17 7673598 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 1993 1993
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs770374782
rs770374782
6 0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs28934574
rs28934574
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2012 2014
dbSNP: rs121912660
rs121912660
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17849781
rs17849781
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.030 1.000 3 2017 2019
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.100 0.923 13 1993 2019
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: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs866419664
rs866419664
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2012 2012
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.050 0.800 5 1993 2019
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.030 0.667 3 2007 2019
dbSNP: rs1019340046
rs1019340046
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519989
rs1057519989
17 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
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: 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: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2019 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: 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