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: rs765905826
rs765905826
ARSA
1 1.000 0.120 22 50625444 inframe deletion GTATCACTG/- delins 0.700 1.000 5 1998 2013
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: 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: rs199476345
rs199476345
ARSA
1 1.000 0.120 22 50626910 missense variant T/C snv 1.4E-05 0.700 1.000 3 2000 2008
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: 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: rs28940894
rs28940894
ARSA
2 0.925 0.120 22 50626271 missense variant T/G snv 8.1E-05 2.1E-05 0.700 1.000 2 2000 2002
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
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: rs1555901083
rs1555901083
ARSA
1 1.000 0.120 22 50627408 splice acceptor variant T/C snv 0.700 1.000 1 1998 1998
dbSNP: rs1569081823
rs1569081823
ARSA
1 1.000 0.120 22 50627387 frameshift variant G/- delins 0.700 1.000 1 2000 2000
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: 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