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: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.030 1.000 3 2017 2017
dbSNP: rs3219151
rs3219151
14 0.752 0.160 5 161701908 3 prime UTR variant C/T snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs12630592
rs12630592
5 0.851 0.080 3 120049399 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1325757098
rs1325757098
6 0.827 0.160 16 71576223 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1432441
rs1432441
3 0.882 0.040 15 66426943 intron variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1488864
rs1488864
4 0.851 0.080 11 6321099 intron variant T/G snv 0.80 0.010 1.000 1 2017 2017
dbSNP: rs1549854
rs1549854
3 0.882 0.040 15 66404397 intron variant A/C;G snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs1937863
rs1937863
3 0.925 0.080 10 5009340 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2133450
rs2133450
3 0.925 0.080 3 7294765 intron variant A/C snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2268498
rs2268498
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs4416670
rs4416670
7 0.827 0.240 6 43982716 intergenic variant T/C snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs496250
rs496250
5 0.851 0.080 3 180909515 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs6267
rs6267
9 0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs7182853
rs7182853
1 1.000 0.040 15 66469947 intron variant T/C snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs7194256
rs7194256
7 0.827 0.120 16 55703779 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs78162420
rs78162420
4 0.882 0.120 12 71941600 missense variant C/A snv 2.1E-03 7.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs9825823
rs9825823
5 0.851 0.080 3 61096480 intron variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.020 1.000 2 2016 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2016 2019