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: 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: rs1028653411
rs1028653411
ARSB
1 1.000 0.120 5 78985129 frameshift variant CCCGAGCCCGGCG/- delins 0.700 1.000 1 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: 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: 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: 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: 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: rs1554032095
rs1554032095
ARSB
1 1.000 0.120 5 78984961 missense variant G/C snv 0.700 1.000 1 2007 2007
dbSNP: rs1554032110
rs1554032110
ARSB
1 1.000 0.120 5 78984975 frameshift variant TGCAC/- del 0.700 1.000 1 2018 2018
dbSNP: rs1554032118
rs1554032118
ARSB
1 1.000 0.120 5 78984985 frameshift variant -/T delins 0.700 1.000 1 2014 2014
dbSNP: rs1554032129
rs1554032129
ARSB
1 1.000 0.120 5 78984996 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1554032131
rs1554032131
ARSB
1 1.000 0.120 5 78985001 frameshift variant TC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1554032145
rs1554032145
ARSB
1 1.000 0.120 5 78985017 frameshift variant GCCGCCAGCG/- delins 0.700 1.000 1 1996 1996
dbSNP: rs1554032153
rs1554032153
ARSB
1 1.000 0.120 5 78985030 frameshift variant G/- del 0.700 1.000 1 1996 1996
dbSNP: rs1554032155
rs1554032155
ARSB
1 1.000 0.120 5 78985034 frameshift variant AGGTGCGG/- del 0.700 1.000 1 2014 2014
dbSNP: rs1554032222
rs1554032222
ARSB
1 1.000 0.120 5 78985100 stop gained A/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1554032243
rs1554032243
ARSB
1 1.000 0.120 5 78985126 frameshift variant GGCCCCGG/- del 0.700 1.000 1 2007 2007
dbSNP: rs1554032252
rs1554032252
ARSB
1 1.000 0.120 5 78985135 frameshift variant G/- del 0.700 1.000 1 2007 2007