Gene: ASL ×
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: rs28940585
rs28940585
ASL
1 1.000 0.120 7 66082443 missense variant C/T snv 8.2E-06 1.4E-05 0.810 1.000 0 1990 2014
dbSNP: rs28941472
rs28941472
ASL
1 1.000 0.120 7 66089114 missense variant A/G snv 1.2E-04 1.5E-04 0.800 1.000 12 1990 2015
dbSNP: rs28940286
rs28940286
ASL
1 1.000 0.120 7 66092566 missense variant C/T snv 7.7E-05 7.0E-05 0.800 1.000 7 1990 2016
dbSNP: rs28941473
rs28941473
ASL
1 1.000 0.120 7 66086751 missense variant G/A snv 2.9E-04 3.4E-04 0.800 1.000 7 1990 2015
dbSNP: rs28940287
rs28940287
ASL
1 1.000 0.120 7 66092078 missense variant C/G;T snv 4.0E-06; 6.4E-05 0.800 1.000 5 1990 2017
dbSNP: rs373697663
rs373697663
ASL
1 1.000 0.120 7 66086797 missense variant G/A snv 2.0E-05 3.5E-05 0.800 1.000 5 1990 2015
dbSNP: rs367543005
rs367543005
ASL
1 1.000 0.120 7 66089693 stop gained C/T snv 0.710 1.000 2 2005 2015
dbSNP: rs761651320
rs761651320
ASL
1 1.000 0.120 7 66087368 stop gained C/T snv 2.0E-05 0.710 1.000 2 2007 2019
dbSNP: rs367543006
rs367543006
ASL
1 1.000 0.120 7 66082934 stop gained C/T snv 0.710 1.000 0 2005 2005
dbSNP: rs752100894
rs752100894
ASL
1 1.000 0.120 7 66082420 missense variant A/G snv 8.1E-06 0.700 1.000 7 1997 2014
dbSNP: rs202142867
rs202142867
ASL
1 1.000 0.120 7 66082887 missense variant T/A;C snv 4.0E-06; 1.2E-04 0.700 1.000 6 2002 2015
dbSNP: rs756363516
rs756363516
ASL
1 1.000 0.120 7 66086785 missense variant A/G snv 9.4E-06 7.0E-06 0.700 1.000 6 2010 2015
dbSNP: rs145138923
rs145138923
ASL
1 1.000 0.120 7 66081825 missense variant G/A snv 1.1E-03 1.2E-03 0.700 1.000 5 2001 2016
dbSNP: rs752783461
rs752783461
ASL
1 1.000 0.120 7 66082926 missense variant G/A snv 2.0E-05 2.8E-05 0.700 1.000 5 2007 2014
dbSNP: rs796051933
rs796051933
ASL
1 1.000 0.120 7 66089676 frameshift variant GTCATCTCTACGC/- delins 2.8E-05 0.700 1.000 5 1991 2017
dbSNP: rs751590073
rs751590073
ASL
1 1.000 0.120 7 66086764 missense variant G/A snv 2.2E-05 7.0E-06 0.700 1.000 4 2002 2014
dbSNP: rs142637046
rs142637046
ASL
1 1.000 0.120 7 66083175 splice donor variant G/A snv 4.4E-05 7.7E-05 0.700 1.000 3 1990 2014
dbSNP: rs777235530
rs777235530
ASL
1 1.000 0.120 7 66083105 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 3 2010 2017
dbSNP: rs778254333
rs778254333
ASL
1 1.000 0.120 7 66086584 splice acceptor variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 3 1990 2014
dbSNP: rs1329070853
rs1329070853
ASL
1 1.000 0.120 7 66089677 splice donor variant GTCATCTCTACGCTGCAGGCAAGAC/- delins 7.0E-06 0.700 1.000 2 2006 2014
dbSNP: rs398123126
rs398123126
ASL
1 1.000 0.120 7 66086763 stop gained C/T snv 8.8E-06 4.9E-05 0.700 1.000 2 2007 2010
dbSNP: rs767543051
rs767543051
ASL
1 1.000 0.120 7 66082925 missense variant C/T snv 1.3E-04 7.7E-05 0.700 1.000 2 2000 2014
dbSNP: rs869312976
rs869312976
ASL
1 1.000 0.120 7 66086664 splice donor variant T/A;G snv 4.0E-06 0.700 1.000 2 2007 2014
dbSNP: rs1554327573
rs1554327573
ASL
1 1.000 0.120 7 66088823 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs369879957
rs369879957
ASL
1 1.000 0.120 7 66087380 stop gained C/T snv 1.2E-05 4.2E-05 0.700 1.000 1 2014 2014