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: 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
dbSNP: rs10805890
rs10805890
HEXB
4 0.851 0.120 5 74697056 missense variant A/G snv 0.16 0.13 0.010 < 0.001 1 1996 1996
dbSNP: rs1114167287
rs1114167287
HEXB
1 1.000 0.120 5 74685430 stop gained G/A snv 0.700 0
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: 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: 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: 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: 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: rs138914144
rs138914144
HEXB
1 1.000 0.120 5 74713575 stop gained C/T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs1453919511
rs1453919511
HEXB
1 1.000 0.120 5 74713512 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1458523090
rs1458523090
OGA
1 1.000 0.120 10 101799149 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1554034423
rs1554034423
HEXB
1 1.000 0.120 5 74685315 frameshift variant T/- delins 0.700 0
dbSNP: rs1554034447
rs1554034447
HEXB
1 1.000 0.120 5 74685377 frameshift variant G/- delins 0.700 0
dbSNP: rs1554034449
rs1554034449
HEXB
1 1.000 0.120 5 74685391 frameshift variant G/- delins 0.700 0
dbSNP: rs1554034452
rs1554034452
HEXB
1 1.000 0.120 5 74685406 stop gained C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1554034505
rs1554034505
HEXB
1 1.000 0.120 5 74685560 splice donor variant G/A snv 0.700 0
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: rs1554036523
rs1554036523
HEXB
1 1.000 0.120 5 74713558 frameshift variant T/- delins 0.700 0
dbSNP: rs1554036638
rs1554036638
HEXB
1 1.000 0.120 5 74715509 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1554036943
rs1554036943
HEXB
1 1.000 0.120 5 74718943 stop gained C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1554037076
rs1554037076
HEXB
1 1.000 0.120 5 74720415 splice acceptor variant ATTTTAATTTAGG/- delins 0.700 0
dbSNP: rs1554037120
rs1554037120
HEXB
1 1.000 0.120 5 74720654 frameshift variant G/- del 0.700 0
dbSNP: rs1554037129
rs1554037129
HEXB
1 1.000 0.120 5 74720691 frameshift variant -/GAGA delins 0.700 0