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: rs1554069660
rs1554069660
ARSB
1 1.000 0.120 5 78780422 frameshift variant G/- del 0.700 1.000 3 1994 2014
dbSNP: rs1554069786
rs1554069786
ARSB
1 1.000 0.120 5 78781901 frameshift variant -/A delins 0.700 1.000 1 1994 1994
dbSNP: rs749989641
rs749989641
ARSB
1 1.000 0.120 5 78885789 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 1995 2017
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: 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: rs774358117
rs774358117
ARSB
1 1.000 0.120 5 78780506 missense variant A/G snv 0.800 1.000 2 1996 2012
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: rs1554069793
rs1554069793
ARSB
1 1.000 0.120 5 78781927 stop gained C/A snv 0.700 1.000 1 1996 1996
dbSNP: rs431905494
rs431905494
ARSB
2 0.925 0.120 5 78955450 frameshift variant G/- delins 0.700 1.000 1 1996 1996
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: rs200188234
rs200188234
ARSB
1 1.000 0.120 5 78780633 stop gained G/A snv 1.2E-05 0.700 1.000 2 1998 2007
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: rs771113472
rs771113472
ARSB
1 1.000 0.120 5 78780492 stop gained G/A snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs891298440
rs891298440
ARSB
1 1.000 0.120 5 78885783 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.710 1.000 6 2000 2015
dbSNP: rs1554079284
rs1554079284
ARSB
1 1.000 0.120 5 78885647 missense variant A/G snv 0.700 1.000 4 2000 2015
dbSNP: rs757061042
rs757061042
ARSB
1 1.000 0.120 5 78969067 stop gained C/T snv 4.0E-06 0.700 1.000 3 2000 2012
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: 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: 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: rs773492223
rs773492223
ARSB
1 1.000 0.120 5 78885747 stop gained G/A;C;T snv 1.2E-05; 4.0E-06; 4.8E-05 0.700 1.000 6 2004 2017
dbSNP: rs1554032094
rs1554032094
ARSB
1 1.000 0.120 5 78984960 stop gained G/A snv 0.700 1.000 3 2004 2012
dbSNP: rs1554086414
rs1554086414
ARSB
1 1.000 0.120 5 78955428 stop gained A/C;T snv 0.700 1.000 3 2004 2014
dbSNP: rs768012515
rs768012515
ARSB
1 1.000 0.120 5 78781850 splice donor variant A/C snv 1.2E-05 2.8E-05 0.700 1.000 3 2004 2014