Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852241
rs137852241
F9
1.000 0.080 X 139551218 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.800 0
dbSNP: rs137852247
rs137852247
F9
0.925 0.080 X 139560852 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.800 0
dbSNP: rs137852257
rs137852257
F9
0.925 0.080 X 139561754 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.800 0
dbSNP: rs1170838100
rs1170838100
F9
1.000 0.080 X 139561979 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs1175050951
rs1175050951
F9
1.000 0.080 X 139561868 missense variant T/A;C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs1182648920
rs1182648920
F9
1.000 0.080 X 139551264 missense variant G/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs1233706534
rs1233706534
F9
1.000 0.080 X 139561920 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs1243180674
rs1243180674
F9
1.000 0.080 X 139562034 missense variant A/G snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs1303221289
rs1303221289
F9
1.000 0.080 X 139561830 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs1306658513
rs1306658513
F9
1.000 0.080 X 139561922 missense variant G/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs1330705989
rs1330705989
F9
1.000 0.080 X 139548435 missense variant G/C;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852223
rs137852223
F9
1.000 0.080 X 139537090 stop gained C/G;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852225
rs137852225
F9
1.000 0.080 X 139537138 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852232
rs137852232
F9
1.000 0.080 X 139541099 missense variant C/G snv 1.9E-05
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852234
rs137852234
F9
1.000 0.080 X 139541127 missense variant A/G snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852235
rs137852235
F9
1.000 0.080 X 139548450 missense variant G/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852236
rs137852236
F9
1.000 0.080 X 139548467 missense variant A/G;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852239
rs137852239
F9
1.000 0.080 X 139551196 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852242
rs137852242
F9
1.000 0.080 X 139551220 missense variant G/A;T snv 6.5E-05
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852244
rs137852244
F9
1.000 0.080 X 139551250 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852245
rs137852245
F9
1.000 0.080 X 139551251 missense variant A/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852250
rs137852250
F9
1.000 0.080 X 139561577 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852252
rs137852252
F9
1.000 0.080 X 139561683 missense variant C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852253
rs137852253
F9
1.000 0.080 X 139561694 missense variant G/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0
dbSNP: rs137852255
rs137852255
F9
1.000 0.080 X 139561743 splice donor variant T/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.700 0