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: 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: 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: rs104894829
rs104894829
1.000 0.160 X 101407773 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
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: rs104894832
rs104894832
1.000 0.160 X 101398387 missense variant C/G;T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 1 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: rs104894835
rs104894835
1.000 0.160 X 101407803 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.800 1.000 3 1989 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: 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: 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: 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: rs104894842
rs104894842
1.000 0.160 X 101398079 stop gained C/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.700 0
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: 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: 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: 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: 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: 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: 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: 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 7 2001 2017