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: rs4845454
rs4845454
2 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.710 1.000 2 2015 2018
dbSNP: rs10733113
rs10733113
3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2018 2018
dbSNP: rs10754557
rs10754557
1 1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3806265
rs3806265
3 0.882 0.160 1 247423034 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs4649203
rs4649203
4 0.851 0.160 1 24193430 intergenic variant G/A snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs7536201
rs7536201
2 0.925 0.040 1 24966593 upstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7552167
rs7552167
6 0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs9988642
rs9988642
3 0.882 0.080 1 67260421 downstream gene variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs17716942
rs17716942
2 0.925 0.040 2 162404181 intron variant T/C snv 9.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs62149416
rs62149416
2 0.925 0.040 2 60856371 intron variant T/C snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs6704688
rs6704688
3 0.882 0.160 2 201241309 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12489120
rs12489120
1 1.000 0.040 3 4978778 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1800024
rs1800024
2 0.925 0.080 3 46371068 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs333
rs333
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs4683946
rs4683946
2 0.925 0.080 3 101896982 intron variant G/T snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs4685408
rs4685408
2 0.925 0.040 3 16954543 intron variant G/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs7637230
rs7637230
2 0.925 0.040 3 101944711 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1020760
rs1020760
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2016 2016
dbSNP: rs4696480
rs4696480
19 0.716 0.400 4 153685974 intron variant T/A snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs2233278
rs2233278
2 0.925 0.040 5 151087628 5 prime UTR variant G/C;T snv 4.8E-02 0.700 1.000 2 2015 2018
dbSNP: rs26653
rs26653
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 1.000 2 2018 2018