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: 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: rs1554032122
rs1554032122
ARSB
1 1.000 0.120 5 78984992 frameshift variant T/- del 0.700 0
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: rs1554032134
rs1554032134
ARSB
1 1.000 0.120 5 78985006 frameshift variant GAGCACC/- del 0.700 1.000 2 2000 2007
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: 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: rs1554032216
rs1554032216
ARSB
1 1.000 0.120 5 78985089 missense variant C/T snv 0.700 1.000 3 2007 2015
dbSNP: rs1554032217
rs1554032217
ARSB
1 1.000 0.120 5 78985092 missense variant C/T snv 0.700 1.000 4 2014 2017
dbSNP: rs1554032220
rs1554032220
ARSB
1 1.000 0.120 5 78985097 missense variant A/G snv 0.700 0
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
dbSNP: rs1554069659
rs1554069659
ARSB
1 1.000 0.120 5 78780407 missense variant G/C snv 0.700 1.000 12 1991 2012
dbSNP: rs1554069660
rs1554069660
ARSB
1 1.000 0.120 5 78780422 frameshift variant G/- del 0.700 1.000 3 1994 2014
dbSNP: rs1554069661
rs1554069661
ARSB
1 1.000 0.120 5 78780437 missense variant C/T snv 0.700 1.000 12 1991 2012
dbSNP: rs1554069668
rs1554069668
ARSB
1 1.000 0.120 5 78780517 frameshift variant G/- del 0.700 1.000 1 2007 2007
dbSNP: rs1554069669
rs1554069669
ARSB
1 1.000 0.120 5 78780524 frameshift variant G/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1554069786
rs1554069786
ARSB
1 1.000 0.120 5 78781901 frameshift variant -/A delins 0.700 1.000 1 1994 1994
dbSNP: rs1554069791
rs1554069791
ARSB
1 1.000 0.120 5 78781909 frameshift variant T/- del 0.700 1.000 1 2005 2005