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: rs1943418
rs1943418
1 1.000 0.080 18 59812296 intergenic variant T/C snv 0.76 0.010 1.000 1 2007 2007
dbSNP: rs2236418
rs2236418
6 0.882 0.120 10 26216567 upstream gene variant A/G snv 0.36 0.010 1.000 1 2007 2007
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2007 2007
dbSNP: rs3091367
rs3091367
1 1.000 0.080 22 37831814 3 prime UTR variant C/G snv 0.27 0.010 1.000 1 2007 2007
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2007 2007
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2007 2007
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2007 2007
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: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2008 2008
dbSNP: rs1427074798
rs1427074798
1 1.000 0.080 10 100297067 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2008 2008
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: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.010 1.000 1 2008 2008
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs686
rs686
9 0.807 0.080 5 175441697 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs12392447
rs12392447
1 1.000 0.080 X 154496001 non coding transcript exon variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs1443547
rs1443547
1 1.000 0.080 11 20601429 missense variant G/A snv 0.37 0.38 0.010 1.000 1 2009 2009
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: rs2832387
rs2832387
1 1.000 0.080 21 29518574 intron variant A/G snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs2832407
rs2832407
2 0.925 0.080 21 29595188 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs463379
rs463379
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs6715729
rs6715729
1 1.000 0.080 2 75198602 synonymous variant A/G snv 0.48 0.58 0.010 1.000 1 2009 2009
dbSNP: rs735668
rs735668
1 1.000 0.080 2 75135918 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs7590720
rs7590720
3 1.000 0.080 2 216033935 intron variant G/A snv 0.73 0.800 1.000 1 2009 2009
dbSNP: rs10913569
rs10913569
1 1.000 0.080 1 178548873 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2010 2010