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: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.070 1.000 7 2014 2018
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.030 1.000 3 2012 2019
dbSNP: rs137853058
rs137853058
3 0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05 0.020 1.000 2 2002 2002
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.020 1.000 2 1999 2018
dbSNP: rs1038579230
rs1038579230
VCP
3 0.882 0.200 9 35067913 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10675541
rs10675541
1 1.000 0.120 3 39468795 intron variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs10878245
rs10878245
1 1.000 0.120 12 40237989 missense variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1425322249
rs1425322249
1 1.000 0.120 5 96979369 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1801582
rs1801582
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs201795631
rs201795631
3 0.882 0.200 9 132349336 missense variant T/C;G snv 8.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2142991
rs2142991
1 1.000 0.120 10 42845657 intergenic variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs35740963
rs35740963
1 1.000 0.120 6 45531876 intron variant -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs63749855
rs63749855
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs63751391
rs63751391
3 0.882 0.120 17 46010395 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs72824905
rs72824905
6 0.827 0.200 16 81908423 missense variant C/G;T snv 5.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs746389377
rs746389377
1 1.000 0.120 10 95384258 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs762046989
rs762046989
5 0.851 0.200 17 45971867 missense variant C/G snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs762104961
rs762104961
3 0.882 0.200 17 46024014 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs886039227
rs886039227
4 0.925 0.200 2 74378123 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs368453549
rs368453549
1 1.000 0.120 19 15272936 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016