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: 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
dbSNP: rs1554032216
rs1554032216
ARSB
1 1.000 0.120 5 78985089 missense variant C/T snv 0.700 1.000 3 2007 2015
dbSNP: rs1554079318
rs1554079318
ARSB
1 1.000 0.120 5 78885760 stop gained C/T snv 0.700 1.000 3 2007 2016
dbSNP: rs1554086414
rs1554086414
ARSB
1 1.000 0.120 5 78955428 stop gained A/C;T snv 0.700 1.000 3 2004 2014
dbSNP: rs1554087439
rs1554087439
ARSB
1 1.000 0.120 5 78964573 missense variant T/A snv 0.700 1.000 3 2007 2015
dbSNP: rs555785323
rs555785323
ARSB
1 1.000 0.120 5 78780649 missense variant C/A;G snv 8.0E-06 0.700 1.000 3 2014 2015
dbSNP: rs757061042
rs757061042
ARSB
1 1.000 0.120 5 78969067 stop gained C/T snv 4.0E-06 0.700 1.000 3 2000 2012
dbSNP: rs765711776
rs765711776
ARSB
1 1.000 0.120 5 78955440 stop gained G/A;C snv 8.0E-06 0.700 1.000 3 2012 2018
dbSNP: rs768012515
rs768012515
ARSB
1 1.000 0.120 5 78781850 splice donor variant A/C snv 1.2E-05 2.8E-05 0.700 1.000 3 2004 2014
dbSNP: rs773460207
rs773460207
ARSB
1 1.000 0.120 5 78964517 stop gained G/A;C snv 1.2E-05 0.700 1.000 3 2005 2007
dbSNP: rs1171277553
rs1171277553
ARSB
1 1.000 0.120 5 78781899 missense variant T/C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs118203938
rs118203938
ARSB
1 1.000 0.120 5 78969095 missense variant C/A;T snv 5.6E-05 0.710 1.000 2 1991 2012
dbSNP: rs118203939
rs118203939
ARSB
2 0.925 0.120 5 78969156 missense variant A/G snv 8.0E-06 0.800 1.000 2 1992 2007
dbSNP: rs1211360114
rs1211360114
ARSB
1 1.000 0.120 5 78780584 missense variant A/C;G snv 7.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs1299207831
rs1299207831
ARSB
1 1.000 0.120 5 78984987 stop gained G/A snv 7.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs147495977
rs147495977
ARSB
1 1.000 0.120 5 78885823 missense variant G/A;C snv 2.5E-04 1.0E-03 0.700 1.000 2 2013 2014
dbSNP: rs1554074118
rs1554074118
ARSB
1 1.000 0.120 5 78839350 splice region variant A/G snv 0.700 1.000 2 2008 2015
dbSNP: rs1554074132
rs1554074132
ARSB
1 1.000 0.120 5 78839401 missense variant C/T snv 0.700 1.000 2 2014 2017