Source: ALL
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: rs148173957
rs148173957
2 1.000 0.040 5 56078195 intron variant TT/- del 8.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs150435906
rs150435906
2 1.000 0.040 8 65952103 intergenic variant G/T snv 2.7E-04 0.700 1.000 1 2015 2015
dbSNP: rs1558005340
rs1558005340
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs17084405
rs17084405
2 1.000 0.040 18 71429162 intergenic variant G/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs28498976
rs28498976
1 1.000 0.040 4 31149735 downstream gene variant G/A snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs2930491
rs2930491
2 1.000 0.040 8 106830066 intergenic variant C/G;T snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs4638568
rs4638568
1 1.000 0.040 16 50011928 regulatory region variant G/A snv 4.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs4671319
rs4671319
1 1.000 0.040 2 57723211 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4895178
rs4895178
1 1.000 0.040 5 121518937 intergenic variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs492146
rs492146
1 1.000 0.040 6 52971097 upstream gene variant G/A snv 0.47 0.700 1.000 1 2014 2014
dbSNP: rs535066
rs535066
1 1.000 0.040 4 46238270 intergenic variant G/T snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs55949311
rs55949311
2 1.000 0.040 13 53557781 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs61670327
rs61670327
1 1.000 0.040 5 3276582 regulatory region variant G/A snv 0.55 0.700 1.000 1 2014 2014
dbSNP: rs62270313
rs62270313
2 1.000 0.040 3 134930924 intron variant T/C snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs631844
rs631844
2 1.000 0.040 5 29054513 intron variant C/T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs6432877
rs6432877
1 1.000 0.040 2 166142257 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6732655
rs6732655
1 1.000 0.040 2 166038556 intron variant A/T snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs71547482
rs71547482
1 1.000 0.040 6 103600058 intergenic variant -/TGCAATCT delins 0.11 0.700 1.000 1 2019 2019
dbSNP: rs71568191
rs71568191
2 1.000 0.040 6 104230957 intergenic variant G/A snv 8.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs72700966
rs72700966
1 1.000 0.040 9 10505224 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7328626
rs7328626
2 1.000 0.040 13 53576772 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs74308953
rs74308953
2 1.000 0.040 9 118668911 intergenic variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs7461897
rs7461897
2 1.000 0.040 8 27037027 intergenic variant A/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs74912790
rs74912790
2 1.000 0.040 9 21354067 upstream gene variant G/A snv 4.2E-05 0.700 1.000 1 2015 2015