Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs25414
rs25414
ARSB
1 1.000 0.120 5 78839418 missense variant C/T snv 4.3E-02 4.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1554069659
rs1554069659
ARSB
1 1.000 0.120 5 78780407 missense variant G/C snv 0.700 1.000 12 1991 2012
dbSNP: rs1554069661
rs1554069661
ARSB
1 1.000 0.120 5 78780437 missense variant C/T snv 0.700 1.000 12 1991 2012
dbSNP: rs1554086431
rs1554086431
ARSB
1 1.000 0.120 5 78955477 missense variant T/C snv 0.700 1.000 12 1991 2012
dbSNP: rs1554088034
rs1554088034
ARSB
1 1.000 0.120 5 78969068 missense variant C/A;G snv 0.700 1.000 12 1991 2012
dbSNP: rs1554088037
rs1554088037
ARSB
1 1.000 0.120 5 78969069 missense variant A/G snv 0.700 1.000 12 1991 2012
dbSNP: rs1554088053
rs1554088053
ARSB
1 1.000 0.120 5 78969079 missense variant C/G snv 0.700 1.000 12 1991 2012
dbSNP: rs775780931
rs775780931
ARSB
1 1.000 0.120 5 78969158 missense variant G/T snv 4.0E-06 0.700 1.000 12 1991 2012
dbSNP: rs431905496
rs431905496
ARSB
1 1.000 0.120 5 78839434 splice region variant A/C snv 4.0E-06 0.700 1.000 8 2005 2016
dbSNP: rs121918181
rs121918181
GUSB
3 0.882 0.120 7 65979782 missense variant G/A snv 5.6E-05 7.0E-05 0.700 1.000 7 1994 2018
dbSNP: rs1255777033
rs1255777033
ARSB
1 1.000 0.120 5 78969027 stop gained G/A snv 8.0E-06 2.1E-05 0.700 1.000 6 1994 2017
dbSNP: rs766914147
rs766914147
ARSB
2 0.925 0.160 5 78969078 frameshift variant C/- delins 2.0E-05 7.0E-06 0.700 1.000 6 2004 2014
dbSNP: rs773492223
rs773492223
ARSB
1 1.000 0.120 5 78885747 stop gained G/A;C;T snv 1.2E-05; 4.0E-06; 4.8E-05 0.700 1.000 6 2004 2017
dbSNP: rs749989641
rs749989641
ARSB
1 1.000 0.120 5 78885789 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 1995 2017
dbSNP: rs1554032217
rs1554032217
ARSB
1 1.000 0.120 5 78985092 missense variant C/T snv 0.700 1.000 4 2014 2017
dbSNP: rs1554079284
rs1554079284
ARSB
1 1.000 0.120 5 78885647 missense variant A/G snv 0.700 1.000 4 2000 2015
dbSNP: rs1554079302
rs1554079302
ARSB
1 1.000 0.120 5 78885690 frameshift variant C/- delins 0.700 1.000 4 2007 2017
dbSNP: rs397514441
rs397514441
ARSB
2 0.925 0.120 5 78985034 missense variant A/C;G;T snv 5.5E-06 0.700 1.000 4 2005 2014
dbSNP: rs431905495
rs431905495
ARSB
1 1.000 0.120 5 78839427 splice acceptor variant C/G snv 2.1E-05 0.700 1.000 4 2007 2016
dbSNP: rs781510986
rs781510986
ARSB
1 1.000 0.120 5 78885582 splice donor variant A/G;T snv 8.0E-06 0.700 1.000 4 2007 2017
dbSNP: rs1408739927
rs1408739927
ARSB
1 1.000 0.120 5 78885818 missense variant C/T snv 0.700 1.000 3 2013 2015
dbSNP: rs1434169374
rs1434169374
GUSB
2 0.925 0.120 7 65974349 stop gained C/T snv 1.4E-05 0.700 1.000 3 1998 2009
dbSNP: rs1465993279
rs1465993279
ARSB
1 1.000 0.120 5 78780659 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 3 2007 2016
dbSNP: rs1554032090
rs1554032090
ARSB
1 1.000 0.120 5 78984956 missense variant A/C;G;T snv 0.700 1.000 3 2007 2015
dbSNP: rs1554032094
rs1554032094
ARSB
1 1.000 0.120 5 78984960 stop gained G/A snv 0.700 1.000 3 2004 2012