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: rs3842727
rs3842727
TH
3 1.000 0.120 11 2163618 upstream gene variant G/T snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.700 1.000 1 2009 2009
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs428595
rs428595
3 1.000 0.120 22 21662102 non coding transcript exon variant A/G snv 0.98 0.700 1.000 1 2018 2018
dbSNP: rs439401
rs439401
8 0.851 0.200 19 44911194 non coding transcript exon variant T/C snv 0.68 0.700 1.000 1 2009 2009
dbSNP: rs4689388
rs4689388
4 0.882 0.360 4 6268329 upstream gene variant G/A snv 0.64 0.700 1.000 1 2009 2009
dbSNP: rs4712523
rs4712523
3 0.925 0.120 6 20657333 intron variant A/G snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs4788084
rs4788084
6 0.827 0.200 16 28528527 downstream gene variant C/T snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs543293
rs543293
3 0.925 0.080 11 86109035 regulatory region variant A/G snv 0.72 0.700 1.000 1 2009 2009
dbSNP: rs657152
rs657152
ABO
22 0.882 0.200 9 133263862 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs6859
rs6859
10 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs7171171
rs7171171
3 0.925 0.120 15 38614840 intergenic variant A/G snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.800 1.000 1 2011 2011
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs7941541
rs7941541
1 11 86147496 intergenic variant G/A snv 0.73 0.700 1.000 1 2009 2009
dbSNP: rs8103315
rs8103315
2 1.000 0.080 19 44750911 intron variant C/A snv 9.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs8106922
rs8106922
5 1.000 0.080 19 44898409 intron variant A/G snv 0.36 0.700 1.000 1 2009 2009
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.700 1.000 1 2011 2011
dbSNP: rs5167
rs5167
7 1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39 0.700 1.000 1 2009 2009
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2009 2009
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.700 1.000 1 2011 2011
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs1990760
rs1990760
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.700 1.000 1 2011 2011
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2011 2018
dbSNP: rs689
rs689
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.700 1.000 1 2011 2011