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: rs61871700
rs61871700
3 10 100068504 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs61751507
rs61751507
3 1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs17112705
rs17112705
2 10 100177437 intron variant T/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs9663140
rs9663140
1 10 102909864 intron variant T/C snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs78139700
rs78139700
1 6 105135997 intron variant C/G;T snv 8.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs333947
rs333947
7 1 109928142 intron variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs2819598
rs2819598
1 6 117132241 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2693560
rs2693560
1 6 117202508 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs210966
rs210966
1 6 117303435 intron variant C/G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs116924819
rs116924819
1 10 124922340 intron variant T/A snv 6.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs13032148
rs13032148
1 2 127107524 upstream gene variant G/A snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs6810325
rs6810325
2 1.000 0.080 3 12799435 intron variant T/C snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs491626
rs491626
ABO
2 9 133269461 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2237078
rs2237078
1 5 140337403 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12557126
rs12557126
1 X 143602181 regulatory region variant C/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs13013209
rs13013209
NEB
1 2 151643935 missense variant C/G snv 0.42 0.35 0.700 1.000 1 2018 2018
dbSNP: rs137933779
rs137933779
1 1 156529759 intron variant A/G snv 7.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs6871959
rs6871959
1 5 158527363 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs3800963
rs3800963
1 7 17940170 intron variant G/A snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs76854597
rs76854597
1 11 22200238 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4665988
rs4665988
1 2 27538569 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1153280
rs1153280
2 1.000 0.120 21 29305751 intron variant G/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs5763790
rs5763790
1 22 30126424 intron variant G/C snv 0.75 0.700 1.000 1 2018 2018
dbSNP: rs1279143
rs1279143
1 14 32705894 intron variant A/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs8101286
rs8101286
1 19 33395807 intron variant T/A;G snv 0.700 1.000 1 2018 2018