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: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2019 2019
dbSNP: rs11644043
rs11644043
2 0.925 0.120 16 50327466 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs11644322
rs11644322
3 0.925 0.120 16 79005703 intron variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs1176026649
rs1176026649
4 0.851 0.120 4 168921582 missense variant C/T snv 7.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs11943456
rs11943456
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs1194611372
rs1194611372
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs12029406
rs12029406
3 0.882 0.120 1 199936700 intergenic variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1209809979
rs1209809979
3 0.925 0.120 1 45568989 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs121913527
rs121913527
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1235228469
rs1235228469
2 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1276300653
rs1276300653
2 0.925 0.120 3 9757072 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2006 2006
dbSNP: rs12939944
rs12939944
2 0.925 0.120 17 12056502 intron variant C/T snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs12947788
rs12947788
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1318
rs1318
2 0.925 0.120 17 67695266 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1322648460
rs1322648460
9 0.776 0.320 11 35139332 frameshift variant G/- delins 0.010 1.000 1 2011 2011
dbSNP: rs1336539869
rs1336539869
2 0.925 0.120 12 57751681 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1339638227
rs1339638227
2 0.925 0.120 9 21971119 missense variant T/C snv 4.3E-06 0.010 1.000 1 2007 2007
dbSNP: rs1370041903
rs1370041903
3 0.925 0.120 6 161350185 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs138147246
rs138147246
2 0.925 0.120 3 9756551 synonymous variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014