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: rs11893842
rs11893842
2 0.925 0.160 2 219572251 intron variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1558519119
rs1558519119
3 0.925 0.120 2 60546061 frameshift variant C/- del 0.700 0
dbSNP: rs1057523157
rs1057523157
3 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0
dbSNP: rs1250394819
rs1250394819
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1057518951
rs1057518951
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs797045277
rs797045277
5 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
dbSNP: rs1563183469
rs1563183469
3 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0
dbSNP: rs568887534
rs568887534
9 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1563406024
rs1563406024
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs750195040
rs750195040
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs1057516033
rs1057516033
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs387907252
rs387907252
3 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1190999960
rs1190999960
9 0.807 0.240 11 65571690 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121907917
rs121907917
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs148634289
rs148634289
6 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1057517858
rs1057517858
3 0.925 0.240 12 49185714 missense variant C/A;T snv 0.700 0
dbSNP: rs1064796460
rs1064796460
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs1555155556
rs1555155556
6 0.851 0.120 12 12435627 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1565627707
rs1565627707
3 0.925 0.240 12 49186657 missense variant C/A snv 0.700 0
dbSNP: rs797045005
rs797045005
4 0.851 0.320 12 49185140 missense variant A/G snv 0.700 0
dbSNP: rs750610248
rs750610248
3 0.882 0.200 14 99175513 missense variant A/C;G snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs1285675735
rs1285675735
6 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1555380716
rs1555380716
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs778139192
rs778139192
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0