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: rs376674848
rs376674848
1 1.000 0.080 12 84220725 intron variant -/ATGTGT delins 0.700 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.750 8 2005 2014
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2016 2016
dbSNP: rs80357929
rs80357929
4 0.851 0.200 17 43092663 frameshift variant A/- del 0.700 0
dbSNP: rs587776701
rs587776701
2 0.925 0.080 5 80675096 frameshift variant A/-;AA delins 2.1E-05 0.700 0
dbSNP: rs80359306
rs80359306
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1870050
rs1870050
5 0.827 0.160 15 51344354 intron variant A/C snv 6.0E-02 0.020 1.000 2 2007 2007
dbSNP: rs13429458
rs13429458
6 0.827 0.200 2 43411699 intron variant A/C snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2009 2009
dbSNP: rs911162
rs911162
1 1.000 0.080 20 56391393 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs28566535
rs28566535
4 0.851 0.120 15 51308944 intron variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913476
rs121913476
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.020 1.000 2 2011 2013
dbSNP: rs1065779
rs1065779
3 0.882 0.120 15 51212614 intron variant A/C;T snv 0.43 0.010 1.000 1 2007 2007
dbSNP: rs10908278
rs10908278
2 0.925 0.160 17 37739961 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1271572
rs1271572
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.010 < 0.001 1 2004 2004
dbSNP: rs4980524
rs4980524
3 0.882 0.080 11 64191787 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs80357115
rs80357115
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4430796
rs4430796
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.730 1.000 3 2011 2018
dbSNP: rs11263763
rs11263763
6 0.882 0.200 17 37743574 intron variant A/G snv 0.43 0.800 1.000 2 2011 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2015
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2008 2009
dbSNP: rs1045242
rs1045242
3 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs11064
rs11064
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019