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: rs121908479
rs121908479
SLC7A9
2 0.925 0.120 19 32862557 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121912691
rs121912691
SLC3A1
2 0.925 0.120 2 44312653 missense variant T/A;C snv 9.2E-05; 2.5E-03 0.010 1.000 1 1997 1997
dbSNP: rs1320457487
rs1320457487
SLC3A1
3 1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1424215334
rs1424215334
SLC3A1
3 1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs200248046
rs200248046
SLC3A1
3 1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs369641941
rs369641941
SLC3A1
2 0.925 0.120 2 44281423 missense variant C/G;T snv 9.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs561079654
rs561079654
SLC3A1
1 1.000 0.120 2 44312643 missense variant G/A snv 2.0E-04 2.8E-05 0.010 1.000 1 2000 2000