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: rs1085307095
rs1085307095
SLC7A9
1 1.000 0.120 19 32864778 splice acceptor variant T/C snv 1.2E-05 0.700 1.000 2 2005 2005
dbSNP: rs146630359
rs146630359
SLC3A1
1 1.000 0.120 2 44275766 synonymous variant T/A snv 2.6E-03 2.6E-03 0.010 1.000 1 2007 2007
dbSNP: rs200483989
rs200483989
SLC3A1
1 1.000 0.120 2 44286074 stop gained C/T snv 3.9E-04 1.9E-04 0.710 1.000 6 1995 2009
dbSNP: rs1233216697
rs1233216697
SLC3A1
1 1.000 0.120 2 44280833 missense variant T/C snv 7.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs139251285
rs139251285
SLC3A1
1 1.000 0.120 2 44312619 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs140317484
rs140317484
SLC3A1
1 1.000 0.120 2 44280851 missense variant C/A;T snv 8.0E-06; 2.7E-03 0.700 1.000 12 1994 2010
dbSNP: rs141944551
rs141944551
SLC3A1 ; PREPL
1 1.000 0.120 2 44320380 missense variant G/A snv 8.0E-05 9.1E-05 0.700 1.000 12 1994 2010
dbSNP: rs144162964
rs144162964
SLC3A1
1 1.000 0.120 2 44312634 missense variant T/C snv 8.2E-04 4.3E-04 0.700 1.000 12 1994 2010
dbSNP: rs1453871309
rs1453871309
SLC3A1
1 1.000 0.120 2 44275801 missense variant T/C snv 4.0E-05 3.5E-05 0.700 1.000 12 1994 2010
dbSNP: rs146963107
rs146963107
SLC3A1 ; PREPL
1 1.000 0.120 2 44320377 missense variant T/C snv 4.8E-05 4.2E-05 0.700 1.000 12 1994 2010
dbSNP: rs368796166
rs368796166
SLC3A1 ; PREPL
1 1.000 0.120 2 44320221 stop gained C/A;G;T snv 2.0E-05; 3.6E-05 0.700 1.000 12 1994 2010
dbSNP: rs373852467
rs373852467
SLC3A1
1 1.000 0.120 2 44312620 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs567478582
rs567478582
SLC3A1
1 1.000 0.120 2 44301085 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 8.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs576810133
rs576810133
SLC3A1
1 1.000 0.120 2 44275918 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.700 1.000 12 1994 2010
dbSNP: rs750912461
rs750912461
SLC3A1
1 1.000 0.120 2 44312608 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs757239030
rs757239030
SLC3A1
1 1.000 0.120 2 44286068 missense variant G/A snv 1.2E-05 0.700 1.000 12 1994 2010
dbSNP: rs765828196
rs765828196
SLC3A1
1 1.000 0.120 2 44301084 missense variant C/T snv 2.0E-05 4.9E-05 0.700 1.000 12 1994 2010
dbSNP: rs766947722
rs766947722
SLC3A1
1 1.000 0.120 2 44275906 missense variant A/G snv 4.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs768848958
rs768848958
SLC3A1
1 1.000 0.120 2 44275953 missense variant G/A snv 8.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs776729515
rs776729515
SLC3A1 ; PREPL
1 1.000 0.120 2 44320325 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 12 1994 2010
dbSNP: rs778354350
rs778354350
SLC3A1
1 1.000 0.120 2 44280737 missense variant A/G snv 8.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs778925791
rs778925791
SLC3A1
1 1.000 0.120 2 44313863 missense variant A/G snv 4.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs1198613438
rs1198613438
SLC7A9
1 1.000 0.120 19 32864709 missense variant G/A snv 4.0E-06 0.700 1.000 10 1999 2010
dbSNP: rs121908483
rs121908483
SLC7A9
1 1.000 0.120 19 32859939 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 10 1999 2010
dbSNP: rs1357600282
rs1357600282
SLC7A9
1 1.000 0.120 19 32859867 missense variant G/A snv 7.0E-06 0.700 1.000 10 1999 2010