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: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs10492367
rs10492367
3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs11564299
rs11564299
2 0.925 0.040 18 28180064 upstream gene variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs11997261
rs11997261
2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2820443
rs2820443
8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2847212
rs2847212
2 0.925 0.040 11 60568491 intergenic variant C/T snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs4775006
rs4775006
1 1.000 0.040 15 57923529 regulatory region variant C/A snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs4920343
rs4920343
1 1.000 0.040 1 18775271 intergenic variant G/A snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs4979341
rs4979341
2 0.925 0.040 9 114143263 intergenic variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs7193778
rs7193778
4 0.882 0.120 16 69529987 intergenic variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7682531
rs7682531
1 1.000 0.040 4 115123255 intergenic variant C/A snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs76983122
rs76983122
1 1.000 0.040 8 143903707 downstream gene variant C/T snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs7775228
rs7775228
7 0.790 0.360 6 32690302 TF binding site variant T/C snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs8067763
rs8067763
1 1.000 0.040 17 72016798 regulatory region variant G/A snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs9783397
rs9783397
1 1.000 0.040 11 109152533 intergenic variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs3740199
rs3740199
3 0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56 0.050 0.600 5 2012 2017
dbSNP: rs1044122
rs1044122
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.030 0.667 3 2014 2017
dbSNP: rs1871054
rs1871054
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.020 0.500 2 2017 2017
dbSNP: rs1278279
rs1278279
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs4747096
rs4747096
2 0.925 0.040 10 70758253 missense variant A/G;T snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs182052
rs182052
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.020 1.000 2 2019 2019
dbSNP: rs10190094
rs10190094
1 1.000 0.040 2 235709582 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs10817595
rs10817595
2 0.925 0.200 9 114361470 intron variant C/A;T snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs3748176
rs3748176
1 1.000 0.040 9 114362451 missense variant G/A snv 0.49 0.41 0.010 1.000 1 2018 2018