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: 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: 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: rs886039914
rs886039914
ARSB
1 1.000 0.120 5 78984959 missense variant T/C snv 0.700 0
dbSNP: rs79970603
rs79970603
ARSB
1 1.000 0.120 5 78885678 missense variant T/A;C snv 2.1E-04 8.0E-04 0.700 1.000 1 2017 2017
dbSNP: rs781510986
rs781510986
ARSB
1 1.000 0.120 5 78885582 splice donor variant A/G;T snv 8.0E-06 0.700 1.000 4 2007 2017
dbSNP: rs779378413
rs779378413
ARSB
1 1.000 0.120 5 78885822 missense variant C/G;T snv 1.6E-05; 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs778868348
rs778868348
ARSB
1 1.000 0.120 5 78955503 splice acceptor variant C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 2 2007 2015
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: rs774358117
rs774358117
ARSB
1 1.000 0.120 5 78780506 missense variant A/G snv 0.800 1.000 2 1996 2012
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: rs773460207
rs773460207
ARSB
1 1.000 0.120 5 78964517 stop gained G/A;C snv 1.2E-05 0.700 1.000 3 2005 2007
dbSNP: rs771296632
rs771296632
ARSB
1 1.000 0.120 5 78839361 stop gained G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
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: rs769996056
rs769996056
ARSB
1 1.000 0.120 5 78780608 stop gained G/A;T snv 2.4E-05 0.700 1.000 1 2014 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
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: rs765711776
rs765711776
ARSB
1 1.000 0.120 5 78955440 stop gained G/A;C snv 8.0E-06 0.700 1.000 3 2012 2018
dbSNP: rs759384989
rs759384989
ARSB
1 1.000 0.120 5 78885790 stop gained C/A;T snv 0.700 1.000 1 2004 2004
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: rs756671977
rs756671977
ARSB
1 1.000 0.120 5 78885674 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs751010538
rs751010538
ARSB
1 1.000 0.120 5 78984974 missense variant G/A;T snv 1.2E-05 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs750845916
rs750845916
ARSB
1 1.000 0.120 5 78985004 frameshift variant A/- del 0.700 1.000 2 2000 2007
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: 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: rs749015246
rs749015246
ARSB
1 1.000 0.120 5 78955407 frameshift variant -/T delins 8.0E-06 7.0E-06 0.700 1.000 1 2014 2014