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: rs10494079
rs10494079
4 0.882 1 107832253 intron variant G/C snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs10797431
rs10797431
5 0.851 0.080 1 2569783 non coding transcript exon variant G/T snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1800601
rs1800601
4 0.882 1 156815825 5 prime UTR variant G/A;T snv 0.67; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2066363
rs2066363
14 0.724 0.240 1 81771892 intron variant C/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
dbSNP: rs34884278
rs34884278
14 0.724 0.240 1 172869708 intron variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs55705316
rs55705316
14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs6679677
rs6679677
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs6689858
rs6689858
14 0.724 0.240 1 197406337 intron variant T/C snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs72920202
rs72920202
4 0.882 1 64895266 intron variant A/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs10202630
rs10202630
4 0.882 2 190398199 intergenic variant T/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs114846446
rs114846446
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11675342
rs11675342
TPO
5 0.851 0.040 2 1403856 intron variant C/T snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs142647938
rs142647938
4 0.882 2 162516642 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1534430
rs1534430
5 0.851 0.040 2 12504610 intron variant C/T snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs2075302
rs2075302
FAP
5 0.882 2 162219636 intron variant T/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs36001488
rs36001488
14 0.724 0.240 2 233276621 intron variant C/T snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs4676410
rs4676410
17 0.716 0.240 2 240624322 intron variant G/A snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs5865
rs5865
5 0.851 0.040 2 97756543 3 prime UTR variant C/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs67927699
rs67927699
4 0.882 2 60960280 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7568275
rs7568275
6 0.827 0.120 2 191101726 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10937560
rs10937560
4 0.882 3 192909627 intron variant G/C snv 0.45 0.700 1.000 1 2019 2019