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: rs121907983
rs121907983
HEXB
3 0.882 0.120 5 74720648 missense variant G/A snv 3.2E-05 1.4E-05 0.810 1.000 17 1991 2013
dbSNP: rs28942073
rs28942073
HEXB
4 0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04 0.800 1.000 17 1991 2015
dbSNP: rs121907986
rs121907986
HEXB
3 0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05 0.710 1.000 9 1994 2018
dbSNP: rs121907982
rs121907982
HEXB
1 1.000 0.120 5 74718921 missense variant A/C snv 8.8E-05 4.2E-05 0.700 1.000 10 1991 1998
dbSNP: rs121907984
rs121907984
HEXB ; GFM2
1 1.000 0.120 5 74721131 missense variant G/A snv 8.6E-04 2.4E-04 0.700 1.000 10 1991 1998
dbSNP: rs121907985
rs121907985
HEXB
2 0.925 0.120 5 74720644 missense variant C/T snv 3.6E-05 4.2E-05 0.700 1.000 10 1991 1998
dbSNP: rs820878
rs820878
HEXB
1 1.000 0.120 5 74685445 missense variant T/C snv 0.97 0.97 0.700 1.000 10 1991 1998
dbSNP: rs201580118
rs201580118
HEXB
1 1.000 0.120 5 74720617 intron variant G/A;C snv 4.8E-05; 8.0E-06 0.700 1.000 7 1989 2016
dbSNP: rs764552042
rs764552042
HEXB ; GFM2
1 1.000 0.120 5 74720731 missense variant C/T snv 3.2E-05 0.700 1.000 6 2011 2016
dbSNP: rs761197472
rs761197472
HEXB
1 1.000 0.120 5 74689474 splice donor variant G/A;C;T snv 4.0E-06 0.700 1.000 4 1994 2012
dbSNP: rs373979283
rs373979283
HEXB
1 1.000 0.120 5 74713530 missense variant T/G snv 2.0E-05 7.0E-06 0.700 1.000 3 2006 2013
dbSNP: rs5030731
rs5030731
HEXB
1 1.000 0.120 5 74715695 splice region variant G/A;C snv 4.0E-06 0.700 1.000 3 2012 2014
dbSNP: rs1309123671
rs1309123671
HEXB
1 1.000 0.120 5 74718363 splice region variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 1998 2013
dbSNP: rs1554035308
rs1554035308
HEXB
1 1.000 0.120 5 74696692 splice acceptor variant G/T snv 0.700 1.000 2 2009 2015
dbSNP: rs779328596
rs779328596
HEXB
1 1.000 0.120 5 74718857 frameshift variant AG/- delins 7.0E-06 0.700 1.000 2 1992 1994
dbSNP: rs794727091
rs794727091
HEXB
1 1.000 0.120 5 74720665 frameshift variant GA/- delins 0.700 1.000 2 2012 2016
dbSNP: rs1554034452
rs1554034452
HEXB
1 1.000 0.120 5 74685406 stop gained C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1554036943
rs1554036943
HEXB
1 1.000 0.120 5 74718943 stop gained C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs573447174
rs573447174
HEXB
1 1.000 0.120 5 74696733 stop gained T/C;G snv 4.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs753823903
rs753823903
HEXB
1 1.000 0.120 5 74693701 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs761117459
rs761117459
HEXB
1 1.000 0.120 5 74689361 stop gained G/A;C snv 8.0E-06; 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs768438206
rs768438206
HEXB
1 1.000 0.120 5 74715573 frameshift variant T/- del 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs771973471
rs771973471
HEXB
1 1.000 0.120 5 74685430 frameshift variant G/-;GG delins 0.700 1.000 1 2012 2012
dbSNP: rs1007338250
rs1007338250
HEXB
1 1.000 0.120 5 74685558 stop gained C/G;T snv 0.700 0
dbSNP: rs1060499701
rs1060499701
HEXB
1 1.000 0.120 5 74685559 missense variant G/A;C;T snv 0.700 0