Gene: HEXA ×
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: rs1057516755
rs1057516755
HEXA
1 1.000 0.120 15 72348075 frameshift variant TTGA/- del 0.700 1.000 1 2005 2005
dbSNP: rs1555472432
rs1555472432
HEXA
1 1.000 0.120 15 72346642 frameshift variant TT/C delins 0.700 0
dbSNP: rs1555475498
rs1555475498
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375833 splice acceptor variant TG/A delins 0.700 0
dbSNP: rs1057519459
rs1057519459
HEXA
1 1.000 0.120 15 72353687 splice region variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519460
rs1057519460
HEXA
1 1.000 0.120 15 72353114 missense variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519464
rs1057519464
HEXA
7 0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs200926928
rs200926928
HEXA
1 1.000 0.120 15 72349076 splice region variant T/C snv 1.6E-05 4.2E-05 0.700 1.000 5 1995 2014
dbSNP: rs121907965
rs121907965
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375972 start lost T/A;C;G snv 8.0E-06; 4.0E-06 0.700 1.000 3 1992 2011
dbSNP: rs863225434
rs863225434
HEXA
1 1.000 0.120 15 72346271 missense variant T/A snv 4.0E-06 0.800 1.000 0 1988 2016
dbSNP: rs1555472553
rs1555472553
HEXA
1 1.000 0.120 15 72347692 frameshift variant T/- delins 0.700 0
dbSNP: rs1057519463
rs1057519463
HEXA
6 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121907960
rs121907960
HEXA
3 1.000 0.120 15 72349148 inframe deletion GAA/- delins 0.700 1.000 4 1991 2005
dbSNP: rs1555472270
rs1555472270
HEXA
1 1.000 0.120 15 72345470 stop gained G/C snv 0.700 0
dbSNP: rs987036804
rs987036804
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375818 stop gained G/A;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 2003 2014
dbSNP: rs769370282
rs769370282
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375947 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs988192535
rs988192535
HEXA
1 1.000 0.120 15 72346689 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs1057516617
rs1057516617
HEXA
1 1.000 0.120 15 72346707 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121907969
rs121907969
HEXA
1 1.000 0.120 15 72353098 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs556872918
rs556872918
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375882 stop gained G/A;C snv 0.700 0
dbSNP: rs28942071
rs28942071
HEXA
2 1.000 0.120 15 72345462 missense variant G/A snv 2.4E-05 7.0E-06 0.800 1.000 10 1984 2016
dbSNP: rs121907966
rs121907966
HEXA
9 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.810 1.000 8 1988 2016
dbSNP: rs121907962
rs121907962
HEXA
1 1.000 0.120 15 72355562 stop gained G/A snv 2.4E-05; 4.0E-06 3.5E-05 0.700 1.000 4 1992 2012
dbSNP: rs786204585
rs786204585
HEXA
6 0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs121907963
rs121907963
HEXA
1 1.000 0.120 15 72346680 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 1991 2014
dbSNP: rs587779406
rs587779406
HEXA
3 1.000 0.120 15 72346552 synonymous variant G/A snv 8.0E-05 1.0E-04 0.700 1.000 3 2010 2014