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: rs4148500
rs4148500
1 1.000 0.040 13 95166034 intron variant G/A snv 1.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs4684846
rs4684846
3 0.882 0.080 3 12297350 intron variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs475688
rs475688
3 0.882 0.160 11 64596819 intron variant C/T snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs505802
rs505802
4 0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2006 2006
dbSNP: rs545854
rs545854
4 0.882 0.160 8 10002570 intron variant G/C snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs559946
rs559946
1 1.000 0.040 11 64591133 5 prime UTR variant T/C snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs660339
rs660339
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2016 2016
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs6837293
rs6837293
2 0.925 0.160 4 81141777 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6855911
rs6855911
7 0.851 0.200 4 9934286 intron variant A/G snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs6903956
rs6903956
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs72552713
rs72552713
2 0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs727502862
rs727502862
1 1.000 0.040 17 44399142 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs753397550
rs753397550
1 1.000 0.040 7 94426426 missense variant C/G;T snv 4.6E-06; 9.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs75786299
rs75786299
1 1.000 0.040 11 64593570 intron variant G/A snv 9.4E-04 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2004 2004
dbSNP: rs7688672
rs7688672
2 0.925 0.160 4 81148295 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs7903456
rs7903456
3 0.882 0.160 10 87159562 intron variant C/T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs7929627
rs7929627
1 1.000 0.040 11 64600264 intron variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs7932775
rs7932775
1 1.000 0.040 11 64600390 missense variant T/C;G snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs893006
rs893006
3 0.882 0.160 11 64598324 intron variant C/A snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs3825016
rs3825016
3 0.882 0.160 11 64591814 synonymous variant C/T snv 0.57 0.51 0.020 1.000 2 2015 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2007 2012