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: rs10509125
rs10509125
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1466835565
rs1466835565
HK1
1 10 69368539 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1799920
rs1799920
2 5 63961656 missense variant C/G;T snv 3.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs1799921
rs1799921
2 5 63961638 missense variant T/C snv 9.4E-03 9.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs200754713
rs200754713
2 1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2049161
rs2049161
2 18 4127583 intron variant A/C;T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs279827
rs279827
2 4 46332685 splice region variant A/G;T snv 0.44 0.41 0.010 1.000 1 2016 2016
dbSNP: rs35369693
rs35369693
2 1 206116696 missense variant C/G;T snv 4.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs754747375
rs754747375
HK1
1 10 69369252 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9983925
rs9983925
4 21 45216929 intron variant C/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1553510492
rs1553510492
4 2 161419040 missense variant A/G snv 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2006 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 18 2004 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 12 2008 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 17 2004 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.200 5 2007 2020
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2014 2014
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2010 2019