Source: BEFREE ×
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: rs1801265
rs1801265
12 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs2071346
rs2071346
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs218916
rs218916
2 1.000 0.040 8 89688709 intron variant C/T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
54 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2274407
rs2274407
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs2287886
rs2287886
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs2290280
rs2290280
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2297595
rs2297595
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs2297630
rs2297630
6 0.827 0.160 10 44376100 intron variant G/A;T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2306283
rs2306283
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs28362731
rs28362731
2 7 30922175 missense variant G/A snv 3.1E-02 2.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs3786136
rs3786136
1 17 1869979 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs3814055
rs3814055
4 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs398122374
rs398122374
2 0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4149056
rs4149056
35 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs4149117
rs4149117
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs4694362
rs4694362
DCK
1 4 71028147 intron variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs4737420
rs4737420
LYN
3 0.925 0.080 8 55895622 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs483352867
rs483352867
7 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs4969170
rs4969170
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs4986910
rs4986910
3 0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs5030437
rs5030437
1 11 36503205 intron variant A/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs5030470
rs5030470
1 11 36493896 intron variant A/G snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs527297896
rs527297896
2 1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05 0.010 1.000 1 2019 2019