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: rs386833823
rs386833823
SLC7A7
1 1.000 0.080 14 22778850 missense variant G/A;C snv 4.0E-06 0.810 1.000 9 1998 2019
dbSNP: rs121908677
rs121908677
SLC7A7
1 1.000 0.080 14 22813238 missense variant C/A snv 4.0E-06 1.4E-05 0.800 1.000 8 1998 2008
dbSNP: rs386833792
rs386833792
SLC7A7
1 1.000 0.080 14 22813385 missense variant G/A snv 0.800 1.000 8 1998 2008
dbSNP: rs386833793
rs386833793
SLC7A7
1 1.000 0.080 14 22813241 missense variant G/A snv 7.0E-06 0.800 1.000 8 1998 2008
dbSNP: rs386833797
rs386833797
SLC7A7
1 1.000 0.080 14 22775446 missense variant T/A snv 0.800 1.000 8 1998 2008
dbSNP: rs386833799
rs386833799
SLC7A7
1 1.000 0.080 14 22774441 missense variant G/T snv 4.0E-06 0.800 1.000 8 1998 2008
dbSNP: rs386833810
rs386833810
SLC7A7
1 1.000 0.080 14 22773681 missense variant A/G snv 0.800 1.000 8 1998 2008
dbSNP: rs386833811
rs386833811
SLC7A7
1 1.000 0.080 14 22813250 missense variant A/G;T snv 0.800 1.000 8 1998 2008
dbSNP: rs386833814
rs386833814
SLC7A7
1 1.000 0.080 14 22813028 missense variant A/G snv 4.0E-06 2.1E-05 0.800 1.000 8 1998 2008
dbSNP: rs386833815
rs386833815
SLC7A7
1 1.000 0.080 14 22812981 missense variant C/G snv 1.2E-05 0.800 1.000 8 1998 2008
dbSNP: rs386833816
rs386833816
SLC7A7
1 1.000 0.080 14 22812945 missense variant A/G snv 0.800 1.000 8 1998 2008
dbSNP: rs386833819
rs386833819
SLC7A7
1 1.000 0.080 14 22779988 missense variant G/A snv 0.800 1.000 8 1998 2008
dbSNP: rs386833820
rs386833820
SLC7A7
1 1.000 0.080 14 22779980 missense variant T/C snv 0.800 1.000 8 1998 2008
dbSNP: rs386833824
rs386833824
SLC7A7
1 1.000 0.080 14 22778810 missense variant C/A;G snv 4.0E-06 0.800 1.000 8 1998 2008
dbSNP: rs386833825
rs386833825
SLC7A7
1 1.000 0.080 14 22776307 missense variant A/G snv 4.0E-06 0.800 1.000 8 1998 2008
dbSNP: rs386833829
rs386833829
SLC7A7
1 1.000 0.080 14 22775833 missense variant C/A snv 0.800 1.000 8 1998 2008
dbSNP: rs72552272
rs72552272
SLC7A7
1 1.000 0.080 14 22775538 missense variant A/C snv 8.0E-06 2.1E-05 0.800 1.000 8 1998 2008
dbSNP: rs386833795
rs386833795
SLC7A7
1 1.000 0.080 14 22775526 missense variant C/T snv 4.0E-06 0.700 1.000 8 1998 2008
dbSNP: rs386833809
rs386833809
SLC7A7
1 1.000 0.080 14 22773686 frameshift variant C/- del 4.0E-06 2.1E-05 0.700 1.000 2 2000 2002
dbSNP: rs121908676
rs121908676
SLC7A7
1 1.000 0.080 14 22813398 start lost T/G snv 0.700 0
dbSNP: rs121908678
rs121908678
SLC7A7
1 1.000 0.080 14 22774371 stop gained G/A;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs121908679
rs121908679
SLC7A7
1 1.000 0.080 14 22778837 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1290445670
rs1290445670
SLC7A7
1 1.000 0.080 14 22773967 frameshift variant T/- delins 1.4E-05 0.700 0
dbSNP: rs146582474
rs146582474
SLC7A7
1 1.000 0.080 14 22775938 splice acceptor variant T/A;C snv 4.3E-04 0.700 0
dbSNP: rs1555320639
rs1555320639
SLC7A7
1 1.000 0.080 14 22775442 splice donor variant A/- del 0.700 0