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: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 1999 1999
dbSNP: rs55814513
rs55814513
2 1.000 0.040 4 6301470 missense variant G/A;T snv 4.0E-03 0.010 1.000 1 1999 1999
dbSNP: rs28364997
rs28364997
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.010 1.000 1 2000 2000
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.030 1.000 3 2001 2002
dbSNP: rs1445081098
rs1445081098
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2230739
rs2230739
1 16 3983435 missense variant T/A;C snv 4.4E-06; 0.29 0.010 < 0.001 1 2002 2002
dbSNP: rs1382119307
rs1382119307
1 6 31116450 missense variant C/G snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2003 2003
dbSNP: rs147634553
rs147634553
1 17 44383518 synonymous variant G/A;T snv 6.5E-05; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs1801206
rs1801206
1 4 6300980 stop gained C/G;T snv 0.63 0.010 1.000 1 2005 2005
dbSNP: rs1801213
rs1801213
1 4 6291969 synonymous variant C/G snv 0.72 0.68 0.010 1.000 1 2005 2005
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs4131347
rs4131347
1 12 71930591 downstream gene variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.040 1.000 4 1999 2009
dbSNP: rs1491850
rs1491850
6 0.925 0.080 11 27728178 intron variant T/C snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs908867
rs908867
7 0.851 0.160 11 27724217 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs11123857
rs11123857
2 2 100987350 non coding transcript exon variant A/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1657268
rs1657268
1 7 155082904 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1885884
rs1885884
2 13 46856141 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.810 1.000 1 2010 2010
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2010 2010