Source: ALL
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: 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: rs118203941
rs118203941
ARSB
3 0.882 0.160 5 78781974 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 3 1992 2007
dbSNP: rs118203943
rs118203943
ARSB
2 0.925 0.160 5 78964477 missense variant T/C snv 2.7E-04 1.7E-04 0.700 1.000 3 2007 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: rs766914147
rs766914147
ARSB
2 0.925 0.160 5 78969078 frameshift variant C/- delins 2.0E-05 7.0E-06 0.700 1.000 2 2005 2007
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: rs199476357
rs199476357
ARSA
1 1.000 0.120 22 50627619 missense variant A/G snv 0.710 1.000 1 2006 2006
dbSNP: rs199476361
rs199476361
ARSA
1 1.000 0.120 22 50625453 missense variant T/C snv 0.710 1.000 1 2006 2006
dbSNP: rs199476374
rs199476374
ARSA
1 1.000 0.120 22 50626941 missense variant G/T snv 8.0E-06 7.0E-06 0.710 1.000 1 1999 1999
dbSNP: rs199476383
rs199476383
ARSA
1 1.000 0.120 22 50626857 missense variant A/C snv 0.710 1.000 1 2005 2005
dbSNP: rs199476385
rs199476385
ARSA
1 1.000 0.120 22 50625263 missense variant G/C snv 0.710 1.000 1 2003 2003
dbSNP: rs199476390
rs199476390
ARSA
1 1.000 0.120 22 50626191 missense variant C/A;T snv 2.1E-05; 4.1E-06 0.710 1.000 1 2000 2000
dbSNP: rs28940895
rs28940895
ARSA
2 0.925 0.120 22 50625446 missense variant G/A snv 4.2E-06 7.0E-06 0.710 1.000 1 2001 2001
dbSNP: rs60504011
rs60504011
ARSA
1 1.000 0.120 22 50627219 missense variant G/A;C;T snv 8.4E-06; 4.2E-06 0.710 1.000 1 2003 2003
dbSNP: rs6151425
rs6151425
ARSA
2 0.925 0.160 22 50625640 missense variant G/A;C;T snv 3.4E-02 0.710 1.000 1 2003 2003