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: rs1004212
rs1004212
2 14 78714883 synonymous variant C/G;T snv 8.0E-06; 0.15 0.010 1.000 1 2011 2011
dbSNP: rs10078866
rs10078866
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.020 1.000 2 2007 2015
dbSNP: rs11178999
rs11178999
1 12 71939790 intron variant G/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1135402761
rs1135402761
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs11617488
rs11617488
1 13 21619823 intergenic variant A/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11624704
rs11624704
3 1.000 0.080 14 78319734 intron variant A/C snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs11819869
rs11819869
2 1.000 0.040 11 46539130 intron variant C/T snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs12364283
rs12364283
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs12765063
rs12765063
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs13212041
rs13212041
6 0.851 0.200 6 77461407 downstream gene variant C/T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1386483
rs1386483
9 0.790 0.080 12 72018714 intron variant T/C snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs144900171
rs144900171
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 0.700 0
dbSNP: rs1455858
rs1455858
3 0.925 0.080 7 136946956 intron variant T/C snv 0.69 0.010 1.000 1 2011 2011
dbSNP: rs1473473
rs1473473
4 0.925 0.080 12 72010598 intron variant C/A;T snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs1554210073
rs1554210073
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1555565492
rs1555565492
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1562150844
rs1562150844
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1565922388
rs1565922388
5 0.925 12 79353599 missense variant T/A snv 0.700 0
dbSNP: rs1565922395
rs1565922395
5 0.925 12 79353602 missense variant A/G snv 0.700 0
dbSNP: rs1565962725
rs1565962725
5 0.925 12 79448953 missense variant C/A snv 0.700 0
dbSNP: rs17110451
rs17110451
1 12 71930054 downstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019