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: rs113547729
rs113547729
1 1.000 0.080 17 4121530 intron variant G/A snv 3.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs7224685
rs7224685
1 1.000 0.080 17 4111090 intron variant G/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs781831
rs781831
1 1.000 0.080 17 4044350 missense variant T/C snv 0.45 0.53 0.700 1.000 1 2018 2018
dbSNP: rs781852
rs781852
1 1.000 0.080 17 4049808 missense variant A/G snv 0.41 0.50 0.700 1.000 1 2018 2018
dbSNP: rs8068804
rs8068804
1 1.000 0.080 17 4082570 intron variant G/A snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs1045493
rs1045493
1 1.000 0.080 20 45877779 synonymous variant G/A snv 0.56 0.52 0.700 1.000 1 2007 2007
dbSNP: rs35260355
rs35260355
2 1.000 0.080 1 33480230 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs71647933
rs71647933
2 1.000 0.080 1 33480000 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1465146591
rs1465146591
1 1.000 0.080 2 135262159 intron variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs2075290
rs2075290
10 0.882 0.160 11 116782580 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2016 2016
dbSNP: rs17684886
rs17684886
2 0.925 0.160 16 75052977 intron variant A/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs7810240
rs7810240
2 1.000 0.080 7 150387372 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2294120
rs2294120
1 1.000 0.080 8 144778182 non coding transcript exon variant A/G snv 0.48 0.37 0.700 1.000 1 2018 2018
dbSNP: rs148316037
rs148316037
1 1.000 0.080 19 22074756 intron variant T/C snv 9.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs1047711865
rs1047711865
1 1.000 0.080 18 76849628 missense variant A/G;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 1996 1996
dbSNP: rs1251901596
rs1251901596
1 1.000 0.080 18 76849634 missense variant A/G snv 4.1E-06 0.010 1.000 1 1996 1996
dbSNP: rs778869893
rs778869893
1 1.000 0.080 18 76904406 missense variant C/G snv 1.6E-05 0.010 1.000 1 1996 1996
dbSNP: rs2304130
rs2304130
5 1.000 0.080 19 19678719 splice region variant A/G snv 0.10 0.12 0.700 1.000 1 2012 2012
dbSNP: rs7901346
rs7901346
1 1.000 0.080 10 240248 intron variant G/A snv 8.8E-03 0.020 1.000 2 2007 2011
dbSNP: rs12571751
rs12571751
2 0.925 0.120 10 79182874 intron variant A/G snv 0.46 0.810 0.750 4 2012 2017
dbSNP: rs34204798
rs34204798
1 1.000 0.080 10 79191374 intron variant G/-;GG;GGG;GGGG delins 0.700 1.000 1 2019 2019
dbSNP: rs703972
rs703972
1 1.000 0.080 10 79193069 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs703978
rs703978
3 1.000 0.080 10 79184390 intron variant C/G;T snv 0.68 0.700 1.000 1 2019 2019