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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2009 2015
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs2495478
rs2495478
1 1.000 0.160 1 55047322 non coding transcript exon variant G/A snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs34787247
rs34787247
4 0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3811463
rs3811463
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs267607071
rs267607071
2 0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs3755132
rs3755132
1 1.000 0.160 2 15589696 upstream gene variant T/G snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs57961569
rs57961569
5 0.827 0.200 2 15939643 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs7585356
rs7585356
1 1.000 0.160 2 214727582 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs807624
rs807624
2 1.000 0.160 2 15642347 regulatory region variant G/T snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs1553551874
rs1553551874
1 1.000 0.160 2 232334720 frameshift variant GC/- delins 0.700 0
dbSNP: rs778634417
rs778634417
1 1.000 0.160 2 178633467 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2018 2018
dbSNP: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs28647582
rs28647582
3 0.882 0.200 4 41747248 intron variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs10060683
rs10060683
1 1.000 0.160 5 92523322 intron variant T/C snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs1027643
rs1027643
1 1.000 0.160 5 92558085 intron variant C/T snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs2221269
rs2221269
1 1.000 0.160 5 92571299 intron variant A/G snv 7.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs376882637
rs376882637
3 0.882 0.160 5 914504 stop gained C/A;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs61344503
rs61344503
1 1.000 0.160 5 92568740 intron variant G/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs6887553
rs6887553
1 1.000 0.160 5 92510102 intron variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs314276
rs314276
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs9404576
rs9404576
3 0.882 0.160 6 104736765 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019