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: 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: 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: 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: 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
dbSNP: rs74315476
rs74315476
ARSA
2 0.925 0.120 22 50625675 missense variant G/A snv 4.0E-06 0.700 1.000 5 1995 2008
dbSNP: rs74315480
rs74315480
ARSA
1 1.000 0.120 22 50625615 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.800 1.000 5 1995 2011
dbSNP: rs765905826
rs765905826
ARSA
1 1.000 0.120 22 50625444 inframe deletion GTATCACTG/- delins 0.700 1.000 5 1998 2013
dbSNP: rs199476366
rs199476366
ARSA
1 1.000 0.120 22 50626708 missense variant C/T snv 1.2E-05 0.800 1.000 4 1997 2016
dbSNP: rs774153480
rs774153480
ARSA
1 1.000 0.120 22 50625183 frameshift variant GGG/-;GG;GGGG;GGGGGGG delins 0.700 1.000 4 2003 2013
dbSNP: rs74315483
rs74315483
ARSA
2 0.925 0.120 22 50626682 missense variant C/T snv 4.0E-06 0.800 1.000 3 2002 2008
dbSNP: rs786204673
rs786204673
ARSA
1 1.000 0.120 22 50627327 frameshift variant G/- delins 0.700 1.000 3 1993 2016
dbSNP: rs1057517429
rs1057517429
ARSA
1 1.000 0.120 22 50627017 frameshift variant CCGGCGG/- delins 8.2E-06 0.700 1.000 2 2003 2003
dbSNP: rs199476349
rs199476349
ARSA
1 1.000 0.120 22 50626250 missense variant C/T snv 1.2E-05 0.700 1.000 2 2004 2008
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: rs398123418
rs398123418
ARSA
1 1.000 0.120 22 50626057 missense variant G/A;C snv 4.7E-06 0.700 1.000 2 1999 2006
dbSNP: rs754722529
rs754722529
ARSA
1 1.000 0.120 22 50626153 splice donor variant C/A;T snv 4.5E-06; 8.9E-06 0.700 1.000 2 2003 2010
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: rs80338820
rs80338820
ARSA
2 0.925 0.120 22 50625578 splice donor variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 1991 2013
dbSNP: rs1057516288
rs1057516288
ARSA
1 1.000 0.120 22 50627568 frameshift variant CA/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1057516730
rs1057516730
ARSA
1 1.000 0.120 22 50627210 stop gained G/A snv 0.700 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: rs1057517237
rs1057517237
ARSA
1 1.000 0.120 22 50625287 frameshift variant A/- del 0.700 1.000 1 2013 2013
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