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: rs1800372
rs1800372
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs181181503
rs181181503
4 0.851 0.160 12 74276187 intron variant T/C snv 1.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs2267708
rs2267708
2 0.925 0.120 7 124752458 intron variant C/T snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs2466029
rs2466029
2 0.925 0.120 8 127188726 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2511713
rs2511713
2 0.925 0.120 8 102565637 downstream gene variant A/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs2546191
rs2546191
4 0.851 0.160 5 95896837 intron variant G/A snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs2651823
rs2651823
2 0.925 0.120 11 2300420 intron variant A/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs2720680
rs2720680
4 0.851 0.160 8 128102971 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs2909430
rs2909430
5 0.827 0.200 17 7675327 5 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs34004493
rs34004493
2 0.925 0.120 2 230289297 intron variant A/G snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs34676223
rs34676223
2 0.925 0.120 1 23617245 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs35603048
rs35603048
BMF
4 0.851 0.160 15 40099764 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3755397
rs3755397
4 0.925 0.120 2 241355498 upstream gene variant A/G snv 6.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs3800461
rs3800461
2 0.925 0.120 6 34648545 intron variant G/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs41271473
rs41271473
2 0.925 0.120 1 228744549 3 prime UTR variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs4240807
rs4240807
4 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs4525246
rs4525246
4 0.851 0.160 11 123524538 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs4869818
rs4869818
2 0.925 0.120 6 154150090 intron variant G/A snv 0.54 0.700 1.000 1 2017 2017
dbSNP: rs57214277
rs57214277
2 0.925 0.120 4 184333619 downstream gene variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs6133175
rs6133175
1 1.000 0.120 20 4911113 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs61904987
rs61904987
2 0.925 0.120 11 113646481 intergenic variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6489882
rs6489882
2 0.925 0.120 12 112943571 intron variant G/A snv 0.75 0.700 1.000 1 2017 2017
dbSNP: rs6546149
rs6546149
4 0.851 0.160 2 25406569 intron variant C/G snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs6586163
rs6586163
2 0.925 0.120 10 88992261 non coding transcript exon variant A/C snv 0.58 0.700 1.000 1 2017 2017