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: 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
dbSNP: rs386834135
rs386834135
1 1.000 0.120 8 1780339 inframe deletion TGG/- delins 0.700 0
dbSNP: rs386834138
rs386834138
1 1.000 0.120 8 1780472 missense variant C/G snv 0.700 0
dbSNP: rs386834139
rs386834139
1 1.000 0.120 8 1771142 frameshift variant G/- del 0.700 0
dbSNP: rs554042394
rs554042394
1 1.000 0.120 8 1771452 stop gained T/A;G snv 1.2E-05 0.700 0
dbSNP: rs587779411
rs587779411
5 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs756267448
rs756267448
1 1.000 0.120 8 1771598 splice donor variant G/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs759830733
rs759830733
1 1.000 0.120 8 1771337 stop gained A/T snv 7.0E-06 0.700 0