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: rs869312203
rs869312203
1.000 0.160 X 101398109 intron variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 2 2011 2017
dbSNP: rs104894841
rs104894841
1.000 0.160 X 101398907 stop gained G/A snv 9.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 14 1993 2015
dbSNP: rs398123224
rs398123224
1.000 0.160 X 101398468 stop gained G/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 7 2001 2013
dbSNP: rs727504350
rs727504350
1.000 0.160 X 101401694 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 4 2000 2016
dbSNP: rs104894844
rs104894844
1.000 0.160 X 101397907 stop gained C/A;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 3 1993 1996
dbSNP: rs869312214
rs869312214
1.000 0.160 X 101398078 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.810 1.000 3 1999 2017
dbSNP: rs886044766
rs886044766
1.000 0.160 X 101398539 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 3 1999 2018
dbSNP: rs104894843
rs104894843
1.000 0.160 X 101398075 stop gained G/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 2 1993 2006
dbSNP: rs398123221
rs398123221
1.000 0.160 X 101398838 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 2 2001 2017
dbSNP: rs1569304851
rs1569304851
1.000 0.160 X 101403873 stop gained C/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 1 2013 2013
dbSNP: rs104894829
rs104894829
1.000 0.160 X 101407773 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs104894839
rs104894839
1.000 0.160 X 101398508 stop gained C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs104894842
rs104894842
1.000 0.160 X 101398079 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs104894849
rs104894849
1.000 0.160 X 101398004 stop gained A/G;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs104894851
rs104894851
0.925 0.200 X 101398920 stop gained G/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 0 2003 2003
dbSNP: rs1057516429
rs1057516429
1.000 0.160 X 101403936 stop gained T/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs1060500747
rs1060500747
1.000 0.160 X 101398851 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs1555985827
rs1555985827
1.000 0.160 X 101401723 stop gained G/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
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 0 1989 2017
dbSNP: rs727503949
rs727503949
1.000 0.160 X 101398928 stop gained G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 0 2004 2004
dbSNP: rs879254022
rs879254022
1.000 0.160 X 101398879 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs104894828
rs104894828
0.882 0.160 X 101398467 missense variant C/A;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.840 1.000 20 1989 2019
dbSNP: rs104894845
rs104894845
0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.860 1.000 18 1989 2018
dbSNP: rs28935197
rs28935197
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.860 1.000 18 1989 2018
dbSNP: rs104894827
rs104894827
1.000 0.160 X 101398033 missense variant G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 14 1989 2017