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: 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: 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: 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: 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: rs398123411
rs398123411
ARSA
1 1.000 0.120 22 50625683 splice acceptor variant T/C snv 0.700 1.000 2 2013 2016
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: 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: rs745884435
rs745884435
ARSA
1 1.000 0.120 22 50627213 frameshift variant G/-;GG delins 0.700 1.000 1 1999 1999
dbSNP: rs786204599
rs786204599
ARSA
1 1.000 0.120 22 50627390 frameshift variant -/G delins 0.700 1.000 1 2007 2007
dbSNP: rs1057516373
rs1057516373
ARSA
1 1.000 0.120 22 50626842 frameshift variant -/TA delins 0.700 0
dbSNP: rs1057516595
rs1057516595
ARSA
1 1.000 0.120 22 50627403 frameshift variant -/TA ins 0.700 0
dbSNP: rs1057516638
rs1057516638
ARSA
1 1.000 0.120 22 50626204 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516887
rs1057516887
ARSA
1 1.000 0.120 22 50626151 splice donor variant ACCG/- delins 0.700 0
dbSNP: rs1057516907
rs1057516907
ARSA
1 1.000 0.120 22 50626973 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517044
rs1057517044
ARSA
1 1.000 0.120 22 50627054 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517073
rs1057517073
ARSA
1 1.000 0.120 22 50626242 frameshift variant G/- delins 0.700 0