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: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.810 1.000 2 2013 2014
dbSNP: rs7934606
rs7934606
2 1.000 0.040 11 1100037 intron variant C/G;T snv 0.810 1.000 2 2013 2016
dbSNP: rs11191865
rs11191865
3 0.925 0.160 10 103913084 intron variant G/A snv 0.44 0.800 1.000 1 2013 2013
dbSNP: rs12610495
rs12610495
1 19 4717660 missense variant A/G;T snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs1278769
rs1278769
1 13 112882313 3 prime UTR variant A/G snv 0.77 0.800 1.000 1 2013 2013
dbSNP: rs1379326
rs1379326
1 8 4760288 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs1981997
rs1981997
3 1.000 0.040 17 45979401 non coding transcript exon variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs2034650
rs2034650
IVD
2 1.000 0.040 15 40425103 intron variant G/A snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs2441727
rs2441727
1 10 66465128 intron variant A/G snv 0.21 0.800 1.000 1 2013 2013
dbSNP: rs2609255
rs2609255
4 0.882 0.080 4 88890044 intron variant G/T snv 0.73 0.800 1.000 1 2013 2013
dbSNP: rs4727443
rs4727443
1 7 99995723 upstream gene variant C/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs6793295
rs6793295
6 0.827 0.240 3 169800667 missense variant T/C;G snv 0.37; 1.8E-04 0.800 1.000 1 2013 2013
dbSNP: rs7005380
rs7005380
1 8 119941633 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1001528
rs1001528
IVD
1 15 40421575 intron variant A/G snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs1007177
rs1007177
1 15 40359637 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1033198
rs1033198
1 11 1325572 intergenic variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10484326
rs10484326
DSP
1 6 7558085 intron variant T/C snv 0.20 0.21 0.700 1.000 1 2013 2013
dbSNP: rs10751635
rs10751635
1 11 1062990 intergenic variant A/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs10794278
rs10794278
1 11 1061718 intergenic variant G/T snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10794279
rs10794279
1 11 1061781 intergenic variant C/T snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10794280
rs10794280
1 11 1062867 intergenic variant C/T snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10794284
rs10794284
1 11 1067011 intergenic variant G/A snv 0.34 0.700 1.000 1 2013 2013
dbSNP: rs10902073
rs10902073
1 11 1060934 TF binding site variant C/A snv 0.31 0.700 1.000 1 2013 2013