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: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2011 2011
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2306073
rs2306073
4 0.882 0.080 12 27402904 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2013 2020
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.030 1.000 3 2013 2019
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.020 < 0.001 2 2013 2014
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.020 1.000 2 2013 2015
dbSNP: rs11111
rs11111
5 0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1132358
rs1132358
3 1.000 0.040 16 1347814 synonymous variant C/T snv 0.44 0.39 0.010 1.000 1 2013 2013
dbSNP: rs1181732881
rs1181732881
1 17 49969496 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1208512188
rs1208512188
1 8 38030595 missense variant A/G snv 9.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs1276624859
rs1276624859
3 0.925 0.080 8 38057134 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2235632
rs2235632
3 1.000 0.040 16 1343019 splice region variant G/A snv 0.46 0.42 0.010 1.000 1 2013 2013
dbSNP: rs2973050
rs2973050
2 1.000 0.040 5 37817242 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3096140
rs3096140
5 0.882 0.080 5 37832731 intron variant G/A snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs3812047
rs3812047
3 1.000 0.040 5 37835296 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4565946
rs4565946
7 0.827 0.080 12 71942989 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2013 2013
dbSNP: rs6855911
rs6855911
7 0.851 0.200 4 9934286 intron variant A/G snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs7209436
rs7209436
5 0.851 0.200 17 45792776 intron variant C/T snv 0.43 0.010 1.000 1 2013 2013