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: rs45487298
rs45487298
3 0.882 0.120 1 209706871 intron variant -/A delins 0.010 1.000 1 2015 2015
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2014 2018
dbSNP: rs3761581
rs3761581
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.020 0.500 2 2010 2016
dbSNP: rs316019
rs316019
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2006 2006
dbSNP: rs4948878
rs4948878
2 1.000 0.040 10 44379373 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1047047
rs1047047
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2270915
rs2270915
2 1.000 0.040 5 32786283 missense variant A/C;G;T snv 0.21 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12140311
rs12140311
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2004 2011
dbSNP: rs2254524
rs2254524
2 1.000 0.040 21 46194555 missense variant A/C;T snv 0.66; 1.6E-05 0.020 1.000 2 2016 2019
dbSNP: rs3754701
rs3754701
4 0.882 0.120 2 237858561 upstream gene variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.795 39 1993 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2004 2018
dbSNP: rs2106809
rs2106809
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.040 1.000 4 2014 2019
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.030 0.667 3 2009 2018
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.030 1.000 3 1999 2018
dbSNP: rs1126742
rs1126742
4 0.925 0.040 1 46932824 missense variant A/G snv 0.17 0.20 0.020 1.000 2 2008 2017
dbSNP: rs1800780
rs1800780
2 0.925 0.120 7 151001791 intron variant A/G snv 0.58 0.56 0.020 1.000 2 2013 2014
dbSNP: rs4646188
rs4646188
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 1.000 2 2018 2019
dbSNP: rs5194
rs5194
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs758801521
rs758801521
4 0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1065297
rs1065297
3 0.925 0.040 10 44370528 3 prime UTR variant A/G snv 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1188884950
rs1188884950
2 0.925 0.080 5 474952 missense variant A/G snv 4.2E-06 0.010 1.000 1 2004 2004
dbSNP: rs12731181
rs12731181
1 1.000 0.040 1 78536904 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2015 2015