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: rs3933769
rs3933769
1 1.000 0.040 1 161589537 intron variant A/G snv 0.74 0.70 0.010 1.000 1 2016 2016
dbSNP: rs5743810
rs5743810
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2008 2008
dbSNP: rs6572335
rs6572335
1 1.000 0.040 14 45965382 intron variant A/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs72661131
rs72661131
15 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs867186
rs867186
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs9624472
rs9624472
2 0.925 0.040 22 24438763 splice region variant A/G snv 0.10 0.010 1.000 1 2015 2015
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: rs12801757
rs12801757
1 1.000 0.040 11 4785824 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1505209
rs1505209
1 1.000 0.040 11 4571047 downstream gene variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs372091
rs372091
1 1.000 0.040 11 5496926 intron variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs4951074
rs4951074
3 1.000 0.040 1 203691653 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2230345
rs2230345
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs8019343
rs8019343
2 0.925 0.080 14 20892263 3 prime UTR variant A/T snv 4.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs149085856
rs149085856
1 1.000 0.040 17 12496210 intergenic variant C/-;CC;CCC delins 0.700 1.000 1 2018 2018
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2015 2015
dbSNP: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2008 2008
dbSNP: rs8176722
rs8176722
ABO
3 1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 0.800 1.000 1 2013 2013
dbSNP: rs9658676
rs9658676
1 1.000 0.040 10 88990441 non coding transcript exon variant C/A snv 2.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2012 2012
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: rs2073342
rs2073342
3 0.882 0.200 14 20892057 missense variant C/G snv 0.73 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2736191
rs2736191
2 0.925 0.040 6 31593133 upstream gene variant C/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2019 2019
dbSNP: rs3024944
rs3024944
1 1.000 0.040 12 57111665 intron variant C/G snv 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs778499956
rs778499956
1 1.000 0.040 12 121899786 missense variant C/G snv 1.6E-05 0.010 1.000 1 2017 2017