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: rs6782799
rs6782799
1 1.000 0.040 3 119891946 intron variant C/T snv 0.54 0.020 1.000 2 2010 2010
dbSNP: rs760761
rs760761
4 0.882 0.080 6 15650901 intron variant G/A snv 0.26 0.020 1.000 2 2008 2010
dbSNP: rs10462028
rs10462028
4 0.882 0.120 4 55432133 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2010 2010
dbSNP: rs117235991
rs117235991
1 1.000 0.040 12 98699448 missense variant A/C snv 9.5E-03 7.8E-03 0.010 1.000 1 2010 2010
dbSNP: rs12912233
rs12912233
5 0.851 0.120 15 60974897 intron variant C/T snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs138526583
rs138526583
1 1.000 0.040 12 98699432 missense variant G/A snv 3.4E-03 3.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs1465107
rs1465107
1 1.000 0.040 X 43678769 intron variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2010 2010
dbSNP: rs17083008
rs17083008
1 1.000 0.040 6 152746792 upstream gene variant G/A snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs2072743
rs2072743
1 1.000 0.040 X 43740274 intron variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs2227956
rs2227956
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.010 1.000 1 2010 2010
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
dbSNP: rs334555
rs334555
1 1.000 0.040 3 120085289 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3760138
rs3760138
6 0.807 0.160 17 76467027 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4238989
rs4238989
4 0.851 0.120 17 76467306 intron variant C/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs6323
rs6323
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2010 2010
dbSNP: rs6484218
rs6484218
5 0.882 0.040 11 10369034 intron variant G/A snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs6500030
rs6500030
1 1.000 0.040 16 59276838 intergenic variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs6937506
rs6937506
7 0.807 0.280 6 132578260 intergenic variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2010 2010
dbSNP: rs7713917
rs7713917
3 0.925 0.040 5 79533426 upstream gene variant A/G snv 0.54 0.800 1.000 1 2010 2010
dbSNP: rs794727961
rs794727961
5 0.851 0.080 12 2512979 missense variant G/A snv 0.010 1.000 1 2010 2010