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: rs1554032099
rs1554032099
ARSB
1 1.000 0.120 5 78984968 stop gained G/A;T snv 0.700 0
dbSNP: rs1554032122
rs1554032122
ARSB
1 1.000 0.120 5 78984992 frameshift variant T/- del 0.700 0
dbSNP: rs1554032160
rs1554032160
ARSB
1 1.000 0.120 5 78985035 frameshift variant -/CGTGCGG delins 0.700 0
dbSNP: rs1554032196
rs1554032196
ARSB
1 1.000 0.120 5 78985059 frameshift variant -/T ins 0.700 0
dbSNP: rs1554032220
rs1554032220
ARSB
1 1.000 0.120 5 78985097 missense variant A/G snv 0.700 0
dbSNP: rs886039914
rs886039914
ARSB
1 1.000 0.120 5 78984959 missense variant T/C snv 0.700 0
dbSNP: rs1554079320
rs1554079320
ARSB
1 1.000 0.120 5 78885764 missense variant A/G snv 0.800 1.000 18 1991 2015
dbSNP: rs1554087423
rs1554087423
ARSB
1 1.000 0.120 5 78964532 missense variant A/G snv 0.800 1.000 17 1991 2017
dbSNP: rs200793396
rs200793396
ARSB
1 1.000 0.120 5 78839372 missense variant G/A;C snv 4.8E-05; 2.0E-05 0.800 1.000 17 1991 2014
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: rs749465732
rs749465732
ARSB
1 1.000 0.120 5 78985004 missense variant A/C;G snv 5.7E-06; 5.7E-06 0.800 1.000 15 1991 2012
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: rs991104525
rs991104525
ARSB
4 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 0.810 1.000 12 1994 2014
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: 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: rs727503809
rs727503809
ARSB
1 1.000 0.120 5 78885782 missense variant C/G;T snv 8.0E-06 0.800 1.000 7 1999 2012
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: rs746206847
rs746206847
ARSB
1 1.000 0.120 5 78969075 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 6 1994 2016