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: rs386834129
rs386834129
1 1.000 0.120 8 1771100 missense variant C/A;G;T snv 2.0E-05; 4.0E-06 0.700 1.000 7 2004 2016
dbSNP: rs386834134
rs386834134
1 1.000 0.120 8 1780317 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 7 2004 2016
dbSNP: rs386834136
rs386834136
1 1.000 0.120 8 1780367 missense variant G/A snv 4.4E-05 3.5E-05 0.700 1.000 7 2004 2016
dbSNP: rs781166361
rs781166361
1 1.000 0.120 8 1780326 missense variant T/G snv 4.0E-06 0.700 1.000 7 2004 2016
dbSNP: rs386834132
rs386834132
1 1.000 0.120 8 1780265 frameshift variant CT/- delins 0.700 1.000 3 2000 2012
dbSNP: rs144495588
rs144495588
2 0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 0.700 1.000 2 2000 2015
dbSNP: rs746397087
rs746397087
1 1.000 0.120 8 1780469 stop gained C/T snv 4.0E-06 0.700 1.000 2 2000 2017
dbSNP: rs104894064
rs104894064
3 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 0
dbSNP: rs1057516582
rs1057516582
1 1.000 0.120 8 1771317 frameshift variant A/- del 0.700 0
dbSNP: rs1057516867
rs1057516867
1 1.000 0.120 8 1771101 frameshift variant T/- del 0.700 0
dbSNP: rs142269885
rs142269885
1 1.000 0.120 8 1771428 missense variant A/C;G;T snv 9.7E-04 0.700 0
dbSNP: rs143730802
rs143730802
4 0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs149308952
rs149308952
1 1.000 0.120 8 1771524 missense variant A/G snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs1554448874
rs1554448874
1 1.000 0.120 8 1771056 start lost T/C snv 0.700 0
dbSNP: rs1554448924
rs1554448924
1 1.000 0.120 8 1771104 frameshift variant A/- del 0.700 0
dbSNP: rs1554449028
rs1554449028
1 1.000 0.120 8 1771257 frameshift variant C/- delins 0.700 0
dbSNP: rs1554449047
rs1554449047
1 1.000 0.120 8 1771280 stop gained C/T snv 0.700 0
dbSNP: rs1554449124
rs1554449124
1 1.000 0.120 8 1771360 stop gained G/A snv 0.700 0
dbSNP: rs1554449136
rs1554449136
1 1.000 0.120 8 1771366 stop gained G/A snv 0.700 0
dbSNP: rs1554451484
rs1554451484
1 1.000 0.120 8 1780248 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554451504
rs1554451504
1 1.000 0.120 8 1780299 frameshift variant T/- delins 0.700 0
dbSNP: rs188259026
rs188259026
1 1.000 0.120 8 1771563 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs34238807
rs34238807
1 1.000 0.120 8 1771116 frameshift variant G/-;GG delins 4.0E-06 0.700 0
dbSNP: rs386834123
rs386834123
1 1.000 0.120 8 1771233 inframe deletion AAG/- delins 0.700 0
dbSNP: rs386834128
rs386834128
1 1.000 0.120 8 1771518 missense variant C/A;T snv 0.700 0