Source: ALL
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: rs587777016
rs587777016
IBA57
1 1.000 1 228175383 missense variant A/C snv 0.800 1.000 1 2013 2013
dbSNP: rs1053773776
rs1053773776
IBA57 ; IBA57-DT
1 1.000 1 228166132 missense variant A/G;T snv 3.2E-05; 1.6E-05 0.700 0
dbSNP: rs1261081427
rs1261081427
IBA57
1 1.000 1 228175139 stop gained C/T snv 0.700 0
dbSNP: rs1298056442
rs1298056442
IBA57 ; IBA57-DT
1 1.000 1 228166129 missense variant C/A;T snv 0.700 0
dbSNP: rs1553264669
rs1553264669
IBA57
1 1.000 1 228174936 missense variant T/G snv 0.700 0
dbSNP: rs1553264725
rs1553264725
IBA57
1 1.000 1 228175128 missense variant C/T snv 0.700 0
dbSNP: rs1553264773
rs1553264773
IBA57
1 1.000 1 228175382 stop gained C/T snv 0.700 0
dbSNP: rs73095427
rs73095427
IBA57
1 1.000 1 228174786 missense variant C/T snv 0.700 0
dbSNP: rs765132163
rs765132163
IBA57 ; IBA57-DT
1 1.000 1 228165966 stop gained C/A;T snv 5.4E-05 7.0E-05 0.700 0
dbSNP: rs765926471
rs765926471
IBA57 ; IBA57-DT
1 1.000 1 228166102 missense variant T/C snv 0.700 0
dbSNP: rs769063859
rs769063859
IBA57
1 1.000 1 228175148 missense variant C/G;T snv 5.6E-05 1.4E-05 0.700 0
dbSNP: rs781627051
rs781627051
IBA57 ; IBA57-DT
1 1.000 1 228166139 missense variant A/C;G snv 8.0E-06 7.0E-06 0.700 0