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: rs1353759920
rs1353759920
4 0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs28936699
rs28936699
1 1.000 0.120 2 201209388 missense variant C/T snv 0.800 1.000 1 2002 2002
dbSNP: rs121908689
rs121908689
2 0.925 0.120 1 46272758 missense variant T/A snv 0.700 0
dbSNP: rs121909775
rs121909775
2 1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs398122800
rs398122800
1 1.000 0.120 2 201209189 frameshift variant -/A ins 0.700 0
dbSNP: rs1057519894
rs1057519894
2 0.925 0.160 7 148811650 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519952
rs1057519952
5 0.882 0.160 3 49375577 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519954
rs1057519954
4 0.882 0.160 3 49375465 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2070673
rs2070673
5 0.827 0.160 10 133527063 non coding transcript exon variant A/T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs267601395
rs267601395
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs75002266
rs75002266
6 0.827 0.160 2 147939241 missense variant G/A snv 3.2E-03 3.0E-03 0.010 1.000 1 2009 2009
dbSNP: rs1057519918
rs1057519918
5 0.851 0.200 8 127738390 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519953
rs1057519953
8 0.807 0.200 3 49375576 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13706
rs13706
11 0.776 0.200 17 40300899 missense variant G/A;C snv 0.15; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2305160
rs2305160
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.010 1.000 1 2007 2007
dbSNP: rs267601394
rs267601394
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
5 0.851 0.200 8 127738434 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs756091827
rs756091827
6 0.851 0.200 8 127738435 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
7 0.790 0.240 15 66435116 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519941
rs1057519941
10 0.776 0.240 3 179203761 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs63750042
rs63750042
6 0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs760228510
rs760228510
6 0.925 0.240 7 5999182 stop gained G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs398122820
rs398122820
B2M
8 0.790 0.240 15 44715641 missense variant G/A snv 0.700 0
dbSNP: rs1023835002
rs1023835002
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016