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: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.090 1.000 9 2007 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2002 2017
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.070 1.000 7 2009 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.060 1.000 6 2005 2012
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.030 1.000 3 2012 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.030 1.000 3 2010 2018
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.030 0.667 3 2005 2013
dbSNP: rs2383207
rs2383207
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.030 1.000 3 2009 2018
dbSNP: rs4149313
rs4149313
9 0.763 0.240 9 104824472 missense variant T/C snv 0.030 1.000 3 2013 2019
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.030 1.000 3 2010 2016
dbSNP: rs6903956
rs6903956
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.030 1.000 3 2012 2015
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 1.000 3 2010 2018
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.020 1.000 2 2014 2015
dbSNP: rs10757274
rs10757274
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.020 1.000 2 2013 2015
dbSNP: rs10903323
rs10903323
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.020 1.000 2 2012 2013
dbSNP: rs10911021
rs10911021
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.020 1.000 2 2015 2018
dbSNP: rs11066001
rs11066001
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.020 0.500 2 2011 2011
dbSNP: rs12041331
rs12041331
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.020 1.000 2 2014 2017
dbSNP: rs1282382243
rs1282382243
8 0.807 0.120 13 50843630 missense variant G/A snv 0.020 1.000 2 2002 2008
dbSNP: rs1310478538
rs1310478538
C3
4 0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05 0.020 1.000 2 2002 2010
dbSNP: rs1333040
rs1333040
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs17321515
rs17321515
16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.020 1.000 2 2009 2019
dbSNP: rs1746048
rs1746048
8 0.776 0.120 10 44280376 downstream gene variant C/T snv 0.25 0.020 1.000 2 2013 2017
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2009 2014
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2018 2019