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: 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
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2013 2013
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: rs2180619
rs2180619
3 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 0.020 1.000 2 2009 2014
dbSNP: rs1012176
rs1012176
1 5 11320426 intron variant G/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs10893268
rs10893268
1 11 124568716 intron variant C/T snv 0.40 0.700 1.000 1 2014 2014
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2014 2014
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1881457
rs1881457
9 0.790 0.280 5 132656717 intron variant A/C snv 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs2349775
rs2349775
6 0.851 0.120 7 8678450 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs3930965
rs3930965
2 1.000 0.040 10 4971951 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs41305272
rs41305272
6 0.851 0.120 15 67807105 3 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs4692589
rs4692589
1 4 170014094 intron variant A/G snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs61910731
rs61910731
2 1.000 0.040 22 19963574 missense variant G/A;C;T snv 2.4E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014