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: rs869312149
rs869312149
1.000 0.160 X 101400667 missense variant T/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 2002 2017
dbSNP: rs869312344
rs869312344
1.000 0.160 X 101400700 missense variant C/G;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 1997 2017
dbSNP: rs727503950
rs727503950
1.000 0.160 X 101400712 missense variant A/G snv 1.1E-05 1.9E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312134
rs869312134
1.000 0.160 X 101407845 missense variant G/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312135
rs869312135
1.000 0.160 X 101407842 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312136
rs869312136
1.000 0.160 X 101407806 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312137
rs869312137
1.000 0.160 X 101407800 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312138
rs869312138
1.000 0.160 X 101407797 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312140
rs869312140
1.000 0.160 X 101403924 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312145
rs869312145
1.000 0.160 X 101401639 missense variant C/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312148
rs869312148
1.000 0.160 X 101400695 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2016 2016
dbSNP: rs869312432
rs869312432
1.000 0.160 X 101398543 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 2005 2016
dbSNP: rs28935490
rs28935490
1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.780 1.000 30 1989 2019
dbSNP: rs104894846
rs104894846
0.925 0.160 X 101398481 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 20 1989 2019
dbSNP: rs28935485
rs28935485
0.925 0.160 X 101398534 missense variant G/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 20 1989 2016
dbSNP: rs869312407
rs869312407
1.000 0.160 X 101398790 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 20 1989 2016
dbSNP: rs869312386
rs869312386
1.000 0.160 X 101398878 missense variant C/A;G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 0 2018 2018
dbSNP: rs886041315
rs886041315
1.000 0.160 X 101403906 missense variant C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 0 2019 2019
dbSNP: rs886044845
rs886044845
1.000 0.160 X 101401755 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 0 2011 2011
dbSNP: rs782197638
rs782197638
1.000 0.160 X 101403819 missense variant C/T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 30 1989 2017
dbSNP: rs869312157
rs869312157
1.000 0.160 X 101398422 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 30 1989 2017
dbSNP: rs869312159
rs869312159
1.000 0.160 X 101398401 missense variant G/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 30 1989 2017
dbSNP: rs869312161
rs869312161
1.000 0.160 X 101398380 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 30 1989 2017
dbSNP: rs104894830
rs104894830
0.925 0.160 X 101398483 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 20 1989 2016
dbSNP: rs104894847
rs104894847
0.925 0.160 X 101407846 missense variant C/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 20 1989 2016