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: rs1466835565
rs1466835565
HK1
1 10 69368539 missense variant A/G snv 0.010 1.000 1 2015 2015
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: rs10509125
rs10509125
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs121964849
rs121964849
2 1.000 0.120 12 6869741 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: rs137853208
rs137853208
3 0.925 0.080 7 50504025 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2074898
rs2074898
3 1.000 0.040 19 1391362 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs373288445
rs373288445
3 0.925 0.080 1 231694534 missense variant C/T snv 5.6E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs3915512
rs3915512
3 1.000 0.040 3 197295369 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs773758385
rs773758385
3 0.925 0.080 1 231694162 missense variant C/T snv 1.0E-04 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs104894127
rs104894127
4 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121918805
rs121918805
4 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs2144025
rs2144025
4 0.925 0.080 6 151986571 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs279826
rs279826
4 1.000 0.080 4 46332192 intron variant A/G snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs4916723
rs4916723
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
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