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: 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
dbSNP: rs199473684
rs199473684
0.925 0.160 X 101399747 3 prime UTR variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 14 2002 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 13 1989 2017
dbSNP: rs730880453
rs730880453
1.000 0.160 X 101398025 inframe deletion CCT/- delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 13 1996 2016
dbSNP: rs104894840
rs104894840
1.000 0.160 X 101398906 missense variant C/G;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 10 1989 2017
dbSNP: rs869312389
rs869312389
1.000 0.160 X 101398867 frameshift variant TT/-;T delins 5.4E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 10 1994 2016
dbSNP: rs112341092
rs112341092
1.000 0.160 X 101397855 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 9 2008 2015
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 7 1989 2016
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: rs727504348
rs727504348
0.925 0.160 X 101397982 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 7 1995 2017
dbSNP: rs104894831
rs104894831
1.000 0.160 X 101407786 missense variant G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.810 1.000 6 1989 2017
dbSNP: rs104894834
rs104894834
1.000 0.160 X 101403846 missense variant G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.830 1.000 6 1989 2019
dbSNP: rs1555985830
rs1555985830
1.000 0.160 X 101401740 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 6 2005 2016
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 6 2002 2017
dbSNP: rs398123223
rs398123223
1.000 0.160 X 101398470 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 6 2007 2015
dbSNP: rs1569304221
rs1569304221
1.000 0.160 X 101401775 missense variant G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 5 2005 2013
dbSNP: rs1569304886
rs1569304886
1.000 0.160 X 101403914 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 5 1994 2017
dbSNP: rs28935486
rs28935486
1.000 0.160 X 101398795 missense variant T/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 5 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 5 1989 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 5 1997 2017
dbSNP: rs869312401
rs869312401
1.000 0.160 X 101398804 missense variant C/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 5 2013 2018
dbSNP: rs869312427
rs869312427
1.000 0.160 X 101398564 missense variant C/G;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 1.000 5 2006 2014