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: rs1434282
rs1434282
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 2 2016 2018
dbSNP: rs3811444
rs3811444
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 2 2016 2017
dbSNP: rs10751450
rs10751450
2 1 203681817 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10923397
rs10923397
2 1 117708521 regulatory region variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs11204538
rs11204538
1 1 247882970 downstream gene variant C/T snv 0.55 0.700 1.000 1 2010 2010
dbSNP: rs112521149
rs112521149
1 1 11829758 intron variant G/A snv 6.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs11464707
rs11464707
1 1 117618398 intron variant T/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs11581122
rs11581122
1 1 117626204 3 prime UTR variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs12083184
rs12083184
1 1 158609130 3 prime UTR variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12135894
rs12135894
2 1 3811497 downstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12563213
rs12563213
2 1 154318779 upstream gene variant G/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs139164185
rs139164185
1 1 198583770 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs148046772
rs148046772
2 1 156314104 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs148912436
rs148912436
1 1 158667938 missense variant T/C snv 8.1E-03 8.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs1569419
rs1569419
5 1 3080038 intron variant T/C snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs1578741
rs1578741
2 1 117716081 intergenic variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17162190
rs17162190
1 1 26546341 intron variant G/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs17534202
rs17534202
7 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs2246434
rs2246434
3 1 158648665 intron variant G/A snv 0.26 0.22 0.700 1.000 1 2018 2018
dbSNP: rs2340727
rs2340727
2 1 161976937 intergenic variant A/G snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs2492301
rs2492301
4 1 37473572 intron variant T/C snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs3123543
rs3123543
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs34282584
rs34282584
1 1 44022794 intron variant A/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs34544423
rs34544423
2 1 198578103 regulatory region variant C/G snv 6.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs35229050
rs35229050
2 1 23514124 intron variant AA/-;A;AAA delins 0.53 0.700 1.000 1 2016 2016