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: rs79987078
rs79987078
SLC7A9
1 1.000 0.120 19 32864206 missense variant G/A snv 1.9E-04 2.2E-04 0.800 1.000 9 2001 2017
dbSNP: rs121908480
rs121908480
SLC7A9
1 1.000 0.120 19 32864261 missense variant C/T snv 2.7E-04 1.7E-04 0.800 1.000 14 1999 2015
dbSNP: rs769448665
rs769448665
SLC7A9
1 1.000 0.120 19 32864655 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 10 1999 2010
dbSNP: rs1395997436
rs1395997436
SLC7A9
1 1.000 0.120 19 32864677 missense variant C/T snv 0.700 1.000 10 1999 2010
dbSNP: rs964489627
rs964489627
SLC7A9
1 1.000 0.120 19 32864680 missense variant C/T snv 0.700 0
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: rs121908485
rs121908485
SLC7A9
1 1.000 0.120 19 32864733 missense variant A/G snv 0.800 1.000 11 1999 2012
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: rs79717007
rs79717007
SLC7A10
1 1.000 0.120 19 33215789 missense variant C/G;T snv 7.0E-04; 5.9E-06 0.010 1.000 1 2004 2004
dbSNP: rs746239064
rs746239064
RPL3 ; SNORD139
1 1.000 0.120 22 39317490 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3738985
rs3738985
SLC3A1
1 1.000 0.120 2 44275649 synonymous variant A/C snv 0.72 0.76 0.010 1.000 1 2000 2000
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: 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: rs1269139353
rs1269139353
SLC3A1
1 1.000 0.120 2 44275903 missense variant T/G snv 8.0E-06 0.700 0
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: 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: 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: rs1558450604
rs1558450604
SLC3A1
1 1.000 0.120 2 44275967 splice donor variant T/G snv 0.700 1.000 2 2015 2015
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: rs747660493
rs747660493
SLC3A1
1 1.000 0.120 2 44280820 missense variant G/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121912694
rs121912694
SLC3A1
1 1.000 0.120 2 44280827 missense variant G/A;T snv 1.6E-05; 8.0E-06 0.800 1.000 13 1994 2012
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: 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: rs369641941
rs369641941
SLC3A1
2 0.925 0.120 2 44281423 missense variant C/G;T snv 9.1E-05 0.710 1.000 13 1994 2013
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