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: rs7855466
rs7855466
3 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs8109875
rs8109875
1 1.000 0.040 19 30578732 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs8176672
rs8176672
ABO
2 1.000 0.040 9 133266772 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs8176693
rs8176693
ABO
9 0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs8176703
rs8176703
ABO
1 1.000 0.040 9 133260460 intron variant G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs8176743
rs8176743
ABO
7 1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.700 1.000 1 2013 2013
dbSNP: rs8176749
rs8176749
ABO
7 1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8176751
rs8176751
ABO
1 1.000 0.040 9 133255635 synonymous variant C/A;T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs9296359
rs9296359
1 1.000 0.040 6 41237952 3 prime UTR variant G/A snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.050 1.000 5 2009 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2007 2018
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 2014 2016
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.020 1.000 2 2015 2016
dbSNP: rs17860508
rs17860508
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.020 1.000 2 2010 2018
dbSNP: rs762513613
rs762513613
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.020 0.500 2 2006 2013
dbSNP: rs915942
rs915942
2 0.925 0.040 X 154398397 splice region variant G/A snv 0.14 0.18 0.020 1.000 2 2014 2015
dbSNP: rs11198918
rs11198918
1 1.000 0.040 10 119423068 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1126535
rs1126535
1 1.000 0.040 X 136648396 synonymous variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1193689718
rs1193689718
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 < 0.001 1 2019 2019
dbSNP: rs12085877
rs12085877
1 1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1211375
rs1211375
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015