Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28935488
rs28935488
1.000 0.160 X 101398563 missense variant A/C;G;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs28935489
rs28935489
1.000 0.160 X 101398479 missense variant G/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs28935491
rs28935491
1.000 0.160 X 101398390 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs28935492
rs28935492
1.000 0.160 X 101398386 missense variant C/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs28935495
rs28935495
1.000 0.160 X 101398554 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs398123201
rs398123201
1.000 0.160 X 101407779 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs730880451
rs730880451
1.000 0.160 X 101398785 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs869312151
rs869312151
1.000 0.160 X 101398929 missense variant G/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs869312154
rs869312154
1.000 0.160 X 101398802 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs869312163
rs869312163
1.000 0.160 X 101398032 missense variant C/G;T snv 1.1E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs869312165
rs869312165
1.000 0.160 X 101397923 missense variant C/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs869312399
rs869312399
1.000 0.160 X 101398810 missense variant G/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 30 1989 2017
dbSNP: rs372966991
rs372966991
1.000 0.160 X 101403845 missense variant C/A;T snv 1.1E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2017
dbSNP: rs397515870
rs397515870
1.000 0.160 X 101400692 missense variant G/C;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2016
dbSNP: rs781838005
rs781838005
1.000 0.160 X 101403941 missense variant C/G;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2016
dbSNP: rs869312150
rs869312150
1.000 0.160 X 101398945 missense variant G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2016
dbSNP: rs869312153
rs869312153
1.000 0.160 X 101398825 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2016
dbSNP: rs869312158
rs869312158
1.000 0.160 X 101398419 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2016
dbSNP: rs869312160
rs869312160
1.000 0.160 X 101398389 missense variant T/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2016
dbSNP: rs869312164
rs869312164
1.000 0.160 X 101397975 missense variant C/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 20 1989 2016
dbSNP: rs111422676
rs111422676
1.000 0.160 X 101398011 missense variant C/T snv 5.5E-05 1.3E-04
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 2001 2017
dbSNP: rs190347120
rs190347120
1.000 0.160 X 101398796 missense variant C/A;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 2002 2017
dbSNP: rs727504348
rs727504348
0.925 0.160 X 101397982 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 1995 2017
dbSNP: rs869312139
rs869312139
1.000 0.160 X 101407714 missense variant T/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 2002 2017
dbSNP: rs869312146
rs869312146
1.000 0.160 X 101400744 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 2002 2017