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: rs17037102
rs17037102
6 0.807 0.240 4 106924637 missense variant C/A;T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1805247
rs1805247
2 0.925 0.080 12 13563041 synonymous variant A/G snv 0.13 0.17 0.010 1.000 1 2006 2006
dbSNP: rs3752482
rs3752482
2 0.925 0.160 6 36765293 intron variant A/C;G snv 4.0E-06; 0.12 0.010 1.000 1 2015 2015
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.030 0.667 3 2005 2011
dbSNP: rs33940208
rs33940208
1 1.000 0.080 11 113975355 synonymous variant C/T snv 8.2E-02 7.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs363387
rs363387
1 1.000 0.080 10 117244053 synonymous variant T/A;C;G snv 4.0E-06; 7.9E-02 0.020 1.000 2 2005 2013
dbSNP: rs2276305
rs2276305
1 1.000 0.080 11 113932382 synonymous variant G/A;C;T snv 7.7E-02; 2.8E-03; 5.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs6350
rs6350
3 0.882 0.080 5 1443084 missense variant G/A;C snv 5.6E-02; 6.8E-05 0.020 1.000 2 2009 2017
dbSNP: rs34315573
rs34315573
1 1.000 0.080 12 13866194 synonymous variant C/T snv 4.9E-02 3.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1805002
rs1805002
4 0.882 0.160 11 6269890 missense variant G/A snv 4.4E-02 5.1E-02 0.010 1.000 1 2001 2001
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.700 1.000 1 2009 2009
dbSNP: rs1867877
rs1867877
3 1.000 0.080 11 18705901 missense variant T/C snv 3.5E-02 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.040 1.000 4 2001 2008
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.030 0.667 3 1996 1998
dbSNP: rs3782886
rs3782886
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2014 2014
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.900 1.000 11 2005 2019
dbSNP: rs9282858
rs9282858
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.720 1.000 4 2014 2019
dbSNP: rs4648143
rs4648143
2 1.000 0.080 4 102616617 3 prime UTR variant G/A;T snv 5.0E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2005 2018
dbSNP: rs142427338
rs142427338
1 1.000 0.080 9 38396880 stop gained C/T snv 1.0E-03; 4.0E-06 1.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs149775276
rs149775276
2 0.925 0.080 8 42732292 missense variant C/T snv 3.6E-04 4.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs1800564
rs1800564
LEP
1 1.000 0.080 7 128254587 missense variant G/A;T snv 1.5E-04; 4.0E-06 0.010 1.000 1 2012 2012