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: 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: rs80338823
rs80338823
ARSA
1 1.000 0.120 22 50625257 frameshift variant ACAGCTGCGTC/- delins 0.700 0
dbSNP: rs1057517237
rs1057517237
ARSA
1 1.000 0.120 22 50625287 frameshift variant A/- del 0.700 1.000 1 2013 2013
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: rs750030142
rs750030142
ARSA
1 1.000 0.120 22 50625338 frameshift variant C/-;CC delins 7.0E-06 0.700 0
dbSNP: rs1555900150
rs1555900150
ARSA
1 1.000 0.120 22 50625352 frameshift variant G/- del 0.700 0
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: rs1135401757
rs1135401757
ARSA
1 1.000 0.120 22 50625401 missense variant T/C snv 0.700 0
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: rs1555900191
rs1555900191
ARSA
1 1.000 0.120 22 50625443 frameshift variant TATCACTGTGG/- delins 0.700 0
dbSNP: rs74315481
rs74315481
ARSA
2 0.925 0.120 22 50625443 missense variant G/A snv 8.4E-06 0.700 0
dbSNP: rs765905826
rs765905826
ARSA
1 1.000 0.120 22 50625444 inframe deletion GTATCACTG/- delins 0.700 1.000 5 1998 2013
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: rs1569077723
rs1569077723
ARSA
1 1.000 0.120 22 50625586 inframe deletion AAG/- delins 0.700 0
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: 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: 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: rs398123411
rs398123411
ARSA
1 1.000 0.120 22 50625683 splice acceptor variant T/C snv 0.700 1.000 2 2013 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: rs1555900463
rs1555900463
ARSA
1 1.000 0.120 22 50626007 frameshift variant C/- delins 0.700 0
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: 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: 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: rs769152137
rs769152137
ARSA
1 1.000 0.120 22 50626065 splice acceptor variant T/G snv 4.6E-06 0.700 0
dbSNP: rs1057516887
rs1057516887
ARSA
1 1.000 0.120 22 50626151 splice donor variant ACCG/- delins 0.700 0