Gene: ARSA ×
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: rs777431148
rs777431148
ARSA
1 1.000 0.120 22 50627293 missense variant A/G snv 5.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057516730
rs1057516730
ARSA
1 1.000 0.120 22 50627210 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1410667898
rs1410667898
ARSA
1 1.000 0.120 22 50625404 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs1057517036
rs1057517036
ARSA
1 1.000 0.120 22 50625935 splice donor variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1555900678
rs1555900678
ARSA
1 1.000 0.120 22 50626256 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1555900900
rs1555900900
ARSA
1 1.000 0.120 22 50626896 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs762284875
rs762284875
ARSA
1 1.000 0.120 22 50626992 stop gained G/A snv 8.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs398123411
rs398123411
ARSA
1 1.000 0.120 22 50625683 splice acceptor variant T/C snv 0.700 1.000 2 2013 2016
dbSNP: rs1057517237
rs1057517237
ARSA
1 1.000 0.120 22 50625287 frameshift variant A/- del 0.700 1.000 1 2013 2013
dbSNP: rs1220454918
rs1220454918
ARSA
1 1.000 0.120 22 50626019 missense variant G/A;C snv 5.0E-06; 5.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs398123414
rs398123414
ARSA
1 1.000 0.120 22 50627585 frameshift variant G/- del 5.9E-06 0.700 1.000 1 2013 2013
dbSNP: rs551472773
rs551472773
ARSA
1 1.000 0.120 22 50626196 stop gained G/A;C;T snv 1.2E-05; 2.8E-04 0.700 1.000 1 2013 2013
dbSNP: rs755635209
rs755635209
ARSA
1 1.000 0.120 22 50625411 frameshift variant G/- del 4.2E-06 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs768028181
rs768028181
ARSA
1 1.000 0.120 22 50627044 stop gained G/T snv 3.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs74315270
rs74315270
ARSA
1 1.000 0.120 22 50626686 frameshift variant -/A delins 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs761860059
rs761860059
ARSA
1 1.000 0.120 22 50627285 stop gained G/A;C snv 9.9E-06; 5.0E-06 0.700 1.000 2 2009 2010
dbSNP: rs761555167
rs761555167
ARSA
1 1.000 0.120 22 50625330 frameshift variant -/G delins 1.4E-05 0.700 1.000 3 2007 2016
dbSNP: rs1227301119
rs1227301119
ARSA
1 1.000 0.120 22 50627593 frameshift variant -/TG delins 5.8E-06 0.700 1.000 1 2007 2007
dbSNP: rs786204599
rs786204599
ARSA
1 1.000 0.120 22 50627390 frameshift variant -/G delins 0.700 1.000 1 2007 2007
dbSNP: rs199476357
rs199476357
ARSA
1 1.000 0.120 22 50627619 missense variant A/G snv 0.710 1.000 1 2006 2006
dbSNP: rs199476361
rs199476361
ARSA
1 1.000 0.120 22 50625453 missense variant T/C snv 0.710 1.000 1 2006 2006
dbSNP: rs2071421
rs2071421
ARSA
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2006 2006
dbSNP: rs398123419
rs398123419
ARSA
1 1.000 0.120 22 50626052 stop gained C/A;T snv 4.7E-06 0.700 1.000 1 2006 2006
dbSNP: rs1199771724
rs1199771724
ARSA
1 1.000 0.120 22 50627372 start lost T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs199476383
rs199476383
ARSA
1 1.000 0.120 22 50626857 missense variant A/C snv 0.710 1.000 1 2005 2005