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: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 7 2010 2019
dbSNP: rs837763
rs837763
5 16 88787321 upstream gene variant C/G;T snv 0.800 1.000 5 2010 2019
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 3 2010 2019
dbSNP: rs9924561
rs9924561
3 16 264781 intron variant G/A;T snv 2.9E-05; 6.5E-03 0.800 1.000 3 2013 2019
dbSNP: rs11082512
rs11082512
1 18 46139716 intergenic variant G/A;C snv 0.800 1.000 2 2012 2016
dbSNP: rs13335629
rs13335629
4 16 260381 intron variant G/A;C snv 1.1E-02 0.800 1.000 2 2013 2019
dbSNP: rs1541252
rs1541252
2 1 203682799 5 prime UTR variant T/A;C snv 0.800 1.000 2 2012 2013
dbSNP: rs1901282
rs1901282
1 8 42537799 non coding transcript exon variant C/G;T snv 0.800 1.000 2 2012 2018
dbSNP: rs198846
rs198846
7 6 26107235 downstream gene variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs2608604
rs2608604
1 16 88783013 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs3218097
rs3218097
5 6 41937537 intron variant G/A;T snv 0.800 1.000 2 2012 2017
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 2 2019 2019
dbSNP: rs551118
rs551118
2 16 88789676 upstream gene variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs6459467
rs6459467
3 6 16287961 intron variant G/A;C snv 0.800 1.000 2 2012 2016
dbSNP: rs6569992
rs6569992
4 6 135131014 intergenic variant G/A;C;T snv 0.700 1.000 2 2010 2012
dbSNP: rs7551442
rs7551442
1 1 203685993 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.800 1.000 2 2010 2012
dbSNP: rs857721
rs857721
2 1 158642758 intron variant T/A;C snv 0.800 1.000 2 2009 2012
dbSNP: rs8887
rs8887
7 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 0.800 1.000 2 2012 2016
dbSNP: rs9494145
rs9494145
11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs1006081
rs1006081
1 6 109304347 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10086987
rs10086987
2 1.000 0.040 8 47177908 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1013891
rs1013891
1 6 135217501 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10184575
rs10184575
1 2 53010234 intergenic variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10223506
rs10223506
3 0.925 0.120 6 25626988 regulatory region variant T/A;G snv 0.700 1.000 1 2012 2012