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: rs11178999
rs11178999
1 12 71939790 intron variant G/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11617488
rs11617488
1 13 21619823 intergenic variant A/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs12765063
rs12765063
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs17110451
rs17110451
1 12 71930054 downstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2161961
rs2161961
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs2261722
rs2261722
1 9 76254665 intron variant G/A snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs402691
rs402691
2 19 53888383 intron variant T/C snv 0.39 0.010 1.000 1 2007 2007
dbSNP: rs4659682
rs4659682
1 1 236518948 intron variant A/G snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs591556
rs591556
1 11 18039853 intron variant T/C snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs6736017
rs6736017
4 2 231108702 missense variant T/C snv 6.3E-03 2.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs144900171
rs144900171
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 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: rs11819869
rs11819869
2 1.000 0.040 11 46539130 intron variant C/T snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs2110267
rs2110267
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2284411
rs2284411
4 1.000 0.040 12 13713238 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs478597
rs478597
2 1.000 0.040 12 117313620 intron variant G/A snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs594242
rs594242
3 1.000 0.040 13 46883917 intron variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs806379
rs806379
2 1.000 0.040 6 88151548 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs79874540
rs79874540
4 0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03 0.020 1.000 2 2015 2017
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: rs11624704
rs11624704
3 1.000 0.080 14 78319734 intron variant A/C snv 0.13 0.010 1.000 1 2011 2011
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