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: rs121912744
rs121912744
1 1.000 0.160 17 44255707 missense variant C/T snv 0.750 1.000 5 1998 2008
dbSNP: rs121912746
rs121912746
1 1.000 0.160 17 44255259 missense variant G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs1238908071
rs1238908071
HK1
1 1.000 0.160 10 69398764 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1295540039
rs1295540039
1 1.000 0.160 3 27390094 missense variant C/T snv 8.2E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1325804996
rs1325804996
1 1.000 0.160 6 38786789 missense variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1335780263
rs1335780263
1 1.000 0.160 12 48145569 missense variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs765891978
rs765891978
1 1.000 0.160 17 44258106 missense variant G/A;T snv 4.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs878853002
rs878853002
1 1.000 0.160 17 44255272 missense variant C/T snv 0.710 1.000 1 2017 2017
dbSNP: rs999716
rs999716
1 1.000 0.160 17 44262056 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121912748
rs121912748
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.100 1.000 10 1999 2010
dbSNP: rs121912751
rs121912751
4 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.740 0.750 4 2006 2010
dbSNP: rs121912753
rs121912753
5 0.827 0.200 17 44251583 missense variant A/G snv 0.020 1.000 2 2004 2006
dbSNP: rs121912745
rs121912745
9 0.807 0.200 17 44255708 missense variant G/A;T snv 0.710 1.000 1 2003 2003
dbSNP: rs121912754
rs121912754
3 0.882 0.200 17 44255292 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1376457227
rs1376457227
2 0.925 0.200 15 53665757 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs768446132
rs768446132
2 0.925 0.200 15 53615684 missense variant A/T snv 8.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs557128345
rs557128345
3 0.882 0.240 15 53615520 stop gained G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10258719
rs10258719
2 0.925 0.280 7 138771243 missense variant A/C;G;T snv 0.69 0.010 1.000 1 2014 2014