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: rs1057516896
rs1057516896
AGXT
1 1.000 0.160 2 240874055 frameshift variant AAGG/- del 0.700 0
dbSNP: rs111742810
rs111742810
AGXT
1 1.000 0.160 2 240874064 splice donor variant T/A snv 0.700 0
dbSNP: rs112673831
rs112673831
AGXT
1 1.000 0.160 2 240875108 splice acceptor variant G/A;C;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs138025751
rs138025751
AGXT
1 1.000 0.160 2 240869357 missense variant G/A;C snv 2.6E-05; 4.4E-06 0.700 0
dbSNP: rs1553648493
rs1553648493
AGXT
1 1.000 0.160 2 240870709 splice donor variant G/A snv 0.700 0
dbSNP: rs1553648568
rs1553648568
AGXT
1 1.000 0.160 2 240871451 splice donor variant T/A snv 0.700 0
dbSNP: rs1553649007
rs1553649007
AGXT
1 1.000 0.160 2 240875206 splice donor variant T/G snv 0.700 0
dbSNP: rs1553649375
rs1553649375
AGXT
1 1.000 0.160 2 240877535 splice acceptor variant AG/- del 0.700 0
dbSNP: rs180177160
rs180177160
AGXT
1 1.000 0.160 2 240878718 missense variant T/C snv 0.700 0
dbSNP: rs180177208
rs180177208
AGXT
1 1.000 0.160 2 240869353 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs180177211
rs180177211
AGXT
1 1.000 0.160 2 240870656 missense variant A/C;G snv 1.2E-05 0.700 0
dbSNP: rs180177217
rs180177217
AGXT
1 1.000 0.160 2 240870708 missense variant G/C;T snv 0.700 0
dbSNP: rs180177233
rs180177233
AGXT
1 1.000 0.160 2 240871444 missense variant CC/GA mnv 0.700 0
dbSNP: rs180177237
rs180177237
AGXT
1 1.000 0.160 2 240873011 missense variant CATCCC/ATCGGT mnv 0.700 0
dbSNP: rs180177250
rs180177250
AGXT
1 1.000 0.160 2 240874010 missense variant G/C snv 0.700 0
dbSNP: rs180177296
rs180177296
AGXT
1 1.000 0.160 2 240877612 stop gained C/T snv 0.700 0
dbSNP: rs61729604
rs61729604
AGXT
1 1.000 0.160 2 240877556 missense variant G/A snv 9.8E-04 1.4E-03 0.700 0
dbSNP: rs756437332
rs756437332
AGXT
1 1.000 0.160 2 240878093 stop gained C/G;T snv 4.8E-05 0.700 0
dbSNP: rs767586362
rs767586362
AGXT
1 1.000 0.160 2 240869179 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs796052057
rs796052057
AGXT
1 1.000 0.160 2 240868887 missense variant G/A;C;T snv 4.1E-06 0.700 0
dbSNP: rs796052058
rs796052058
AGXT
1 1.000 0.160 2 240869213 missense variant C/A snv 0.700 0
dbSNP: rs796052059
rs796052059
AGXT
1 1.000 0.160 2 240869258 missense variant C/A snv 0.700 0
dbSNP: rs796052060
rs796052060
AGXT
1 1.000 0.160 2 240869328 missense variant G/T snv 0.700 0
dbSNP: rs796052062
rs796052062
AGXT
1 1.000 0.160 2 240873049 missense variant G/A snv 0.700 0
dbSNP: rs796052063
rs796052063
AGXT
1 1.000 0.160 2 240878026 missense variant T/C snv 0.700 0