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: rs1028653411
rs1028653411
ARSB
1 1.000 0.120 5 78985129 frameshift variant CCCGAGCCCGGCG/- delins 0.700 1.000 1 2007 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: rs1179935748
rs1179935748
ARSB
1 1.000 0.120 5 78985073 missense variant T/A;C snv 2.2E-05 0.700 1.000 1 2014 2014
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: rs118203940
rs118203940
ARSB
1 1.000 0.120 5 78955486 missense variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs118203941
rs118203941
ARSB
3 0.882 0.160 5 78781974 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs118203942
rs118203942
ARSB
1 1.000 0.120 5 78984965 missense variant C/G;T snv 6.8E-06; 6.8E-06 0.800 1.000 4 1996 2007
dbSNP: rs118203943
rs118203943
ARSB
2 0.925 0.160 5 78964477 missense variant T/C snv 2.7E-04 1.7E-04 0.830 1.000 15 1996 2014
dbSNP: rs118203944
rs118203944
ARSB
1 1.000 0.120 5 78839391 missense variant T/C;G snv 2.8E-05 0.800 1.000 1 2012 2012
dbSNP: rs1196325597
rs1196325597
ARSB
1 1.000 0.120 5 78969026 missense variant C/T snv 4.0E-06 0.800 1.000 9 1994 2017
dbSNP: rs1209412483
rs1209412483
ARSB
1 1.000 0.120 5 78780605 stop gained G/A;C snv 1.4E-05 0.700 1.000 1 2013 2013
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: 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: rs1251438062
rs1251438062
ARSB
1 1.000 0.120 5 78780460 stop gained G/C;T snv 4.0E-06 0.700 1.000 1 2000 2000
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: 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: 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: 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: rs1484763838
rs1484763838
ARSB
1 1.000 0.120 5 78964597 missense variant A/C;T snv 7.0E-06 0.700 1.000 1 2006 2006
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: rs1554032095
rs1554032095
ARSB
1 1.000 0.120 5 78984961 missense variant G/C snv 0.700 1.000 1 2007 2007