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: rs10168349
rs10168349
4 2 46133768 intron variant G/C snv 0.36 0.800 1.000 3 2009 2018
dbSNP: rs11065987
rs11065987
17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 2 2009 2017
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 2 2009 2017
dbSNP: rs2413450
rs2413450
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 2 2009 2017
dbSNP: rs10224002
rs10224002
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.800 1.000 1 2009 2009
dbSNP: rs16926246
rs16926246
HK1
4 10 69333636 intron variant C/T snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.800 1.000 1 2009 2009
dbSNP: rs9483788
rs9483788
4 6 135114363 intergenic variant T/C snv 0.19 0.800 1.000 1 2009 2009
dbSNP: rs495828
rs495828
24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.700 1.000 2 2010 2017
dbSNP: rs7775698
rs7775698
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 2 2010 2012
dbSNP: rs4953318
rs4953318
5 2 46127912 intron variant A/C snv 0.43 0.700 1.000 2 2012 2017
dbSNP: rs2032314
rs2032314
2 21 33982222 downstream gene variant T/C snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs7312105
rs7312105
2 12 2414189 intron variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs13008603
rs13008603
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs2213169
rs2213169
4 11 5281833 intron variant G/A;T snv 4.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs762516
rs762516
4 X 154536448 intron variant C/T snv 4.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs10224210
rs10224210
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 2 2016 2017
dbSNP: rs833805
rs833805
3 6 44062274 non coding transcript exon variant A/G snv 0.92 0.700 1.000 2 2016 2018
dbSNP: rs10008637
rs10008637
2 4 76492991 intron variant T/A;C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs1010553
rs1010553
2 1.000 0.080 3 52506757 synonymous variant T/C snv 0.53 0.59 0.700 1.000 1 2016 2016
dbSNP: rs10401969
rs10401969
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10495928
rs10495928
5 2 46126027 intron variant A/G snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs10711289
rs10711289
1 3 169450583 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
3 9 133252613 non coding transcript exon variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11039436
rs11039436
2 11 47866484 intergenic variant A/C;G;T snv 0.700 1.000 1 2016 2016