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: rs2297991
rs2297991
4 10 112153464 3 prime UTR variant T/C snv 0.69 0.700 1.000 4 2015 2019
dbSNP: rs1065853
rs1065853
5 19 44909976 non coding transcript exon variant G/A;C;T snv 0.700 1.000 3 2017 2019
dbSNP: rs112374545
rs112374545
2 19 11078223 intron variant C/T snv 0.11 0.700 1.000 3 2015 2019
dbSNP: rs1129555
rs1129555
5 10 112150963 3 prime UTR variant A/G snv 0.71 0.700 1.000 3 2017 2019
dbSNP: rs174547
rs174547
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.700 1.000 3 2016 2019
dbSNP: rs174554
rs174554
7 1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28 0.700 1.000 3 2015 2019
dbSNP: rs2126259
rs2126259
9 1.000 8 9327636 intron variant T/C snv 0.87 0.700 1.000 3 2016 2019
dbSNP: rs2169387
rs2169387
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 3 2018 2019
dbSNP: rs2278426
rs2278426
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.700 1.000 3 2018 2019
dbSNP: rs247617
rs247617
20 0.827 0.160 16 56956804 regulatory region variant C/A snv 0.29 0.700 1.000 3 2016 2019
dbSNP: rs2618568
rs2618568
2 20 17863324 intergenic variant C/A snv 0.53 0.700 1.000 3 2015 2018
dbSNP: rs28362263
rs28362263
3 1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 0.700 1.000 3 2018 2019
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.700 1.000 3 2018 2019
dbSNP: rs4297946
rs4297946
2 20 41182635 3 prime UTR variant G/C;T snv 0.700 1.000 3 2010 2019
dbSNP: rs4939883
rs4939883
5 1.000 0.040 18 49640844 TF binding site variant T/C;G snv 0.700 1.000 3 2009 2018
dbSNP: rs557933
rs557933
2 1 234717521 intron variant A/C snv 0.65 0.700 1.000 3 2015 2018
dbSNP: rs56156922
rs56156922
5 16 56953457 intergenic variant T/C snv 0.26 0.700 1.000 3 2018 2019
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.700 1.000 3 2015 2019
dbSNP: rs76866386
rs76866386
2 2 43848344 non coding transcript exon variant T/C snv 7.3E-02 0.700 1.000 3 2015 2019
dbSNP: rs7703051
rs7703051
18 0.851 0.120 5 75329662 intron variant C/A snv 0.38 0.700 1.000 3 2016 2019
dbSNP: rs77542162
rs77542162
11 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 0.700 1.000 3 2015 2018
dbSNP: rs10260606
rs10260606
3 7 44544952 upstream gene variant G/A;C snv 0.700 1.000 2 2015 2018
dbSNP: rs1077834
rs1077834
5 15 58431280 intron variant T/C snv 0.34 0.700 1.000 2 2017 2018
dbSNP: rs10889348
rs10889348
4 1 62612551 intron variant A/T snv 0.32 0.700 1.000 2 2018 2019
dbSNP: rs11164654
rs11164654
2 1 92502755 regulatory region variant T/C snv 0.85 0.700 1.000 2 2015 2018