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: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10748835
rs10748835
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2003 2003
dbSNP: rs12229654
rs12229654
20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs879254840
rs879254840
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs694539
rs694539
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 < 0.001 1 2016 2016
dbSNP: rs1941404
rs1941404
3 0.882 0.120 11 114298316 non coding transcript exon variant A/G snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs974389711
rs974389711
1 1.000 0.040 11 116836210 synonymous variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs632793
rs632793
3 0.882 0.120 1 11850620 upstream gene variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs198388
rs198388
4 0.851 0.160 1 11857283 downstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs198389
rs198389
10 0.776 0.240 1 11859214 upstream gene variant A/G snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2001 2001
dbSNP: rs2302685
rs2302685
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2222823
rs2222823
4 0.925 0.080 3 123885940 upstream gene variant T/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs13281615
rs13281615
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs9349379
rs9349379
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs4757268
rs4757268
6 0.827 0.120 11 14789216 synonymous variant A/G snv 0.63 0.64 0.010 1.000 1 2003 2003
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2010 2010