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: rs434943
rs434943
3 14 68847342 intergenic variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs7204230
rs7204230
3 16 53158419 intron variant T/C snv 0.31 0.800 1.000 1 2013 2013
dbSNP: rs7232
rs7232
4 1.000 0.080 11 60173126 missense variant T/A snv 0.31 0.27 0.700 1.000 1 2013 2013
dbSNP: rs7896783
rs7896783
3 10 63402393 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs7968440
rs7968440
3 12 50740958 intron variant A/G snv 0.28 0.800 1.000 1 2013 2013
dbSNP: rs10519203
rs10519203
8 0.851 0.080 15 78521704 intron variant G/A snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs11102001
rs11102001
4 0.925 0.080 1 109757069 missense variant G/A snv 9.4E-02 0.16 0.700 1.000 1 2014 2014
dbSNP: rs10157379
rs10157379
3 1 247442297 intron variant C/G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs12777
rs12777
6 5 132335969 synonymous variant C/G snv 3.1E-02 2.8E-02 0.800 1.000 2 2009 2016
dbSNP: rs6054
rs6054
FGB
6 1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03 0.800 1.000 2 2011 2016
dbSNP: rs11780978
rs11780978
2 1.000 0.040 8 143960684 intron variant G/A snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs11859517
rs11859517
1 16 53147335 intron variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs12913259
rs12913259
1 15 50722519 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs148685782
rs148685782
FGG
4 1.000 0.080 4 154611883 missense variant G/C snv 1.9E-03 2.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs150768229
rs150768229
FGB
1 4 154567149 intron variant A/C snv 9.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs1892534
rs1892534
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs2057655
rs2057655
1 5 132471932 non coding transcript exon variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs2250644
rs2250644
1 10 89249122 intron variant C/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs2420915
rs2420915
1 10 121080764 regulatory region variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs2731439
rs2731439
1 12 50666567 intron variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs2801231
rs2801231
2 1.000 0.080 X 122083259 intergenic variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs367677
rs367677
1 14 68806373 intergenic variant A/G snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs56702977
rs56702977
1 15 42379110 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs62246343
rs62246343
1 3 9501958 3 prime UTR variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs71520386
rs71520386
1 7 22813902 intron variant C/T snv 0.13 0.700 1.000 1 2016 2016