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: rs1554032196
rs1554032196
ARSB
1 1.000 0.120 5 78985059 frameshift variant -/T ins 0.700 0
dbSNP: rs1554069660
rs1554069660
ARSB
1 1.000 0.120 5 78780422 frameshift variant G/- del 0.700 1.000 3 1994 2014
dbSNP: rs1554032134
rs1554032134
ARSB
1 1.000 0.120 5 78985006 frameshift variant GAGCACC/- del 0.700 1.000 2 2000 2007
dbSNP: rs750845916
rs750845916
ARSB
1 1.000 0.120 5 78985004 frameshift variant A/- del 0.700 1.000 2 2000 2007
dbSNP: rs1554032110
rs1554032110
ARSB
1 1.000 0.120 5 78984975 frameshift variant TGCAC/- del 0.700 1.000 1 2018 2018
dbSNP: rs1554032131
rs1554032131
ARSB
1 1.000 0.120 5 78985001 frameshift variant TC/- del 0.700 1.000 1 2014 2014
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: 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: rs1554069668
rs1554069668
ARSB
1 1.000 0.120 5 78780517 frameshift variant G/- del 0.700 1.000 1 2007 2007
dbSNP: rs1554069791
rs1554069791
ARSB
1 1.000 0.120 5 78781909 frameshift variant T/- del 0.700 1.000 1 2005 2005
dbSNP: rs1554074124
rs1554074124
ARSB
1 1.000 0.120 5 78839361 frameshift variant G/- del 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: rs766914147
rs766914147
ARSB
2 0.925 0.160 5 78969078 frameshift variant C/- delins 2.0E-05 7.0E-06 0.700 1.000 6 2004 2014
dbSNP: rs1554079302
rs1554079302
ARSB
1 1.000 0.120 5 78885690 frameshift variant C/- delins 0.700 1.000 4 2007 2017
dbSNP: rs431905493
rs431905493
ARSB
2 0.925 0.120 5 78985011 frameshift variant C/- delins 0.700 1.000 3 1992 2007
dbSNP: rs1554086417
rs1554086417
ARSB
1 1.000 0.120 5 78955439 frameshift variant AGTAT/CTTCAGG;CTTGACTTCAGG delins 0.700 1.000 2 2011 2012
dbSNP: rs1554089838
rs1554089838
ARSB
1 1.000 0.120 5 78984790 splice donor variant GGGCGAGAAGCCGCCGGGACCCATAACTGGGTCGGCGGTCCGAGCCCCGCCTGCCAGCGCCCGCGGCCTCAAGGGCCGGGTAGGAGCGGCAGGGCGCCGGCGAAAGGCGGGGCGGGGGCGGCGCGGGCGGCGGGGGCGCCGCGTACCTGGTAG/- delins 0.700 1.000 2 2015 2017
dbSNP: rs1028653411
rs1028653411
ARSB
1 1.000 0.120 5 78985129 frameshift variant CCCGAGCCCGGCG/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1554032118
rs1554032118
ARSB
1 1.000 0.120 5 78984985 frameshift variant -/T delins 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: 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: rs1554074135
rs1554074135
ARSB
1 1.000 0.120 5 78839407 frameshift variant -/G delins 0.700 1.000 1 2007 2007