Gene: ARSA ×
Source: CLINVAR ×
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: rs1375757476
rs1375757476
ARSA
1 1.000 0.120 22 50626173 stop gained C/T snv 1.7E-05 2.1E-05 0.700 1.000 3 2000 2015
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: rs1057516730
rs1057516730
ARSA
1 1.000 0.120 22 50627210 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1555900678
rs1555900678
ARSA
1 1.000 0.120 22 50626256 stop gained G/A snv 0.700 1.000 1 2015 2015
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: 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: 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: 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: rs74315472
rs74315472
ARSA
2 0.882 0.120 22 50626618 missense variant G/A snv 1.4E-05 0.700 1.000 11 1990 2016
dbSNP: rs74315455
rs74315455
ARSA
2 0.925 0.120 22 50627329 missense variant C/A;T snv 1.5E-05; 1.5E-05 0.720 0.909 10 1991 2018
dbSNP: rs74315457
rs74315457
ARSA
3 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.740 1.000 10 1991 2016
dbSNP: rs80338819
rs80338819
ARSA
1 0.925 0.120 22 50626676 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.710 1.000 10 1992 2015
dbSNP: rs74315473
rs74315473
ARSA
1 1.000 0.120 22 50626265 missense variant G/A snv 8.1E-06 7.0E-06 0.700 1.000 9 1994 2016
dbSNP: rs199476355
rs199476355
ARSA
1 1.000 0.120 22 50626264 missense variant C/T snv 1.2E-04 1.0E-04 0.700 1.000 8 1994 2016
dbSNP: rs28940893
rs28940893
ARSA
3 0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 0.750 1.000 8 1991 2016
dbSNP: rs74315470
rs74315470
ARSA
1 1.000 0.120 22 50626709 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 8 1994 2013
dbSNP: rs74315458
rs74315458
ARSA
2 0.925 0.120 22 50627374 missense variant C/A;T snv 7.1E-05 4.2E-05 0.710 1.000 7 1992 2016
dbSNP: rs74315479
rs74315479
ARSA
2 0.925 0.120 22 50625639 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 7 1993 2016
dbSNP: rs199476352
rs199476352
ARSA
1 1.000 0.120 22 50627375 missense variant G/A snv 7.0E-06 0.700 1.000 6 1999 2016
dbSNP: rs74315456
rs74315456
ARSA
2 0.925 0.120 22 50627338 missense variant G/A snv 3.4E-05 3.5E-05 0.700 1.000 6 1991 2013
dbSNP: rs74315467
rs74315467
ARSA
1 1.000 0.120 22 50626877 missense variant G/A;T snv 2.0E-05; 8.0E-06 0.700 1.000 6 1993 2016
dbSNP: rs74315475
rs74315475
ARSA
3 0.851 0.120 22 50626033 missense variant T/A snv 3.4E-05 6.3E-05 0.700 1.000 6 1994 2014
dbSNP: rs199476382
rs199476382
ARSA
1 1.000 0.120 22 50626195 missense variant C/T snv 8.3E-06 0.800 1.000 5 1995 2017
dbSNP: rs199476384
rs199476384
ARSA
1 1.000 0.120 22 50626699 missense variant A/G snv 1.2E-05 0.710 1.000 5 2003 2015
dbSNP: rs74315459
rs74315459
ARSA
2 0.925 0.120 22 50626202 missense variant C/A;T snv 2.9E-05 0.800 1.000 5 1993 2016