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: rs117038461
rs117038461
1 1.000 0.040 7 100243731 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs140607780
rs140607780
1 1.000 0.040 7 100505900 upstream gene variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2010 2010
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2017 2017
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs189889864
rs189889864
2 0.925 0.040 9 104634643 downstream gene variant G/A snv 2.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs559110055
rs559110055
2 0.925 0.160 9 104840491 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17398575
rs17398575
3 0.882 0.040 7 106769006 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1129293
rs1129293
3 0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26 0.010 1.000 1 2017 2017
dbSNP: rs8048002
rs8048002
4 0.851 0.320 16 10898131 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7528419
rs7528419
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs12740374
rs12740374
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs697829
rs697829
2 0.925 0.160 X 109623948 3 prime UTR variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2011 2018
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2005 2005
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2005 2005
dbSNP: rs5070
rs5070
5 0.882 0.160 11 116837304 intron variant A/G snv 0.56 0.60 0.010 1.000 1 2018 2018
dbSNP: rs670
rs670
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs201394051
rs201394051
2 0.925 0.040 5 117697919 intergenic variant TA/-;TATA;TATATA delins 0.700 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2003 2003
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 2013 2017
dbSNP: rs5065
rs5065
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.010 1.000 1 2012 2012
dbSNP: rs17568
rs17568
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs3087459
rs3087459
2 0.925 0.160 6 12289406 upstream gene variant A/C snv 0.20 0.010 1.000 1 2014 2014