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: rs756421370
rs756421370
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
dbSNP: rs1057519286
rs1057519286
3 0.882 0.080 1 29196234 stop gained A/C;G snv 0.700 0
dbSNP: rs1177373525
rs1177373525
2 0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1231502335
rs1231502335
1 1.000 0.080 3 193643579 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs151103940
rs151103940
3 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs284489
rs284489
3 0.882 0.080 8 104945792 intron variant A/G snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs886041091
rs886041091
18 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
dbSNP: rs672601371
rs672601371
4 0.925 0.080 2 240783791 missense variant A/T snv 0.700 0
dbSNP: rs746681765
rs746681765
3 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs672601366
rs672601366
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
dbSNP: rs387906930
rs387906930
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.020 1.000 2 2010 2011
dbSNP: rs28939714
rs28939714
3 0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs780533096
rs780533096
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs119103265
rs119103265
5 0.827 0.120 1 12002033 missense variant C/T snv 0.020 1.000 2 2006 2011
dbSNP: rs104893753
rs104893753
2 0.925 0.080 3 193643005 stop gained C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs104894270
rs104894270
3 0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs201754030
rs201754030
5 0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs2157719
rs2157719
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs374997012
rs374997012
9 0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587777175
rs587777175
TFG
2 0.925 0.080 3 100728759 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs80356524
rs80356524
3 0.882 0.200 19 45553777 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1555303073
rs1555303073
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
dbSNP: rs672601363
rs672601363
6 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0