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: rs1740828
rs1740828
2 0.925 0.080 6 21648854 regulatory region variant G/A snv 0.55 0.710 1.000 2 2016 2018
dbSNP: rs4733613
rs4733613
1 1.000 0.080 8 128587032 intergenic variant C/G snv 0.86 0.700 1.000 2 2016 2018
dbSNP: rs10835920
rs10835920
1 1.000 0.080 11 32468118 intergenic variant C/T snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs113998067
rs113998067
1 1.000 0.080 1 37607755 downstream gene variant T/C snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs11583244
rs11583244
1 1.000 0.080 1 225764772 regulatory region variant C/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs117280150
rs117280150
1 1.000 0.080 8 14014030 intergenic variant T/G snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs11841589
rs11841589
1 1.000 0.080 13 73240754 intergenic variant G/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs12970291
rs12970291
12 0.763 0.120 18 75305279 intergenic variant G/A snv 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs148261157
rs148261157
1 1.000 0.080 2 60670444 intergenic variant G/A snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs1679014
rs1679014
1 1.000 0.080 9 22207038 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs370989584
rs370989584
1 1.000 0.080 4 133040031 intergenic variant T/- del 8.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs376674848
rs376674848
1 1.000 0.080 12 84220725 intron variant -/ATGTGT delins 0.700 1.000 1 2018 2018
dbSNP: rs4052756
rs4052756
1 1.000 0.080 6 19914263 intergenic variant C/T snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs571866661
rs571866661
1 1.000 0.080 11 77315297 downstream gene variant TTTTTTTTTTTTTTTTT/-;T;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT delins 8.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs605965
rs605965
2 0.925 0.080 6 75723198 downstream gene variant T/A snv 2.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs7981863
rs7981863
1 1.000 0.080 13 73238004 intergenic variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs8176323
rs8176323
1 1.000 0.080 17 43043694 downstream gene variant G/C snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs889312
rs889312
14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs9600103
rs9600103
1 1.000 0.080 13 73237742 intergenic variant A/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs1063539
rs1063539
5 0.827 0.360 3 186857603 3 prime UTR variant G/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2016 2016