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: rs104894848
rs104894848
1.000 0.160 X 101407710 missense variant C/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.820 1.000 0 1989 2017
dbSNP: rs104894852
rs104894852
0.925 0.200 X 101397871 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.810 1.000 0 1989 2017
dbSNP: rs28935195
rs28935195
0.925 0.200 X 101401713 missense variant C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.810 1.000 0 1989 2017
dbSNP: rs28935494
rs28935494
1.000 0.160 X 101398018 missense variant C/G;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.810 1.000 0 1989 2020
dbSNP: rs797044613
rs797044613
1.000 0.160 X 101407780 missense variant T/C;G snv 9.4E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.810 1.000 0 2002 2017
dbSNP: rs104894836
rs104894836
1.000 0.160 X 101407738 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 1989 2017
dbSNP: rs104894837
rs104894837
1.000 0.160 X 101401743 missense variant G/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 1989 2017
dbSNP: rs104894838
rs104894838
1.000 0.160 X 101400699 missense variant A/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 1989 2017
dbSNP: rs28935487
rs28935487
1.000 0.160 X 101398789 missense variant T/A;G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 0 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 0 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 0 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 0 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 0 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 0 1989 2017
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: rs398123226
rs398123226
0.882 0.160 X 101398403 missense variant G/C;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.710 1.000 0 2017 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: 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: rs1057516429
rs1057516429
1.000 0.160 X 101403936 stop gained T/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
dbSNP: rs1057519609
rs1057519609
1.000 0.160 X 101397950 inframe deletion AAG/- delins
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: rs1555985002
rs1555985002
1.000 0.160 X 101398520 frameshift variant -/T delins
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0