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: rs387906309
rs387906309
HEXA
10 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.710 1.000 25 1988 2019
dbSNP: rs121907956
rs121907956
HEXA
2 0.925 0.120 15 72345476 missense variant C/T snv 5.6E-05 3.5E-05 0.800 1.000 16 1988 2016
dbSNP: rs76173977
rs76173977
HEXA
1 1.000 0.120 15 72348047 splice donor variant C/A;G;T snv 2.2E-04 0.700 1.000 12 1991 2016
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: rs121907955
rs121907955
HEXA
2 0.925 0.120 15 72345461 missense variant C/A;T snv 4.0E-06 0.800 1.000 9 1988 2016
dbSNP: rs121907957
rs121907957
HEXA
1 1.000 0.120 15 72353129 missense variant C/T snv 7.0E-06 0.800 1.000 8 1988 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: rs147324677
rs147324677
HEXA
1 1.000 0.120 15 72346234 splice donor variant C/A;G snv 1.2E-04 2.1E-05 0.700 1.000 8 1988 2005
dbSNP: rs121907952
rs121907952
HEXA
1 1.000 0.120 15 72345528 stop gained C/A;T snv 8.0E-06 0.800 1.000 6 1982 2016
dbSNP: rs121907954
rs121907954
HEXA
2 0.807 0.120 15 72350518 missense variant C/G;T snv 1.3E-04 0.830 1.000 6 1988 2016
dbSNP: rs121907980
rs121907980
HEXA
2 0.925 0.120 15 72350517 splice donor variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 6 1991 2012
dbSNP: rs28941770
rs28941770
HEXA
2 0.925 0.120 15 72353105 missense variant C/A;G;T snv 4.8E-05 0.820 1.000 6 1988 2016
dbSNP: rs185429231
rs185429231
HEXA
1 1.000 0.120 15 72351235 splice acceptor variant C/A snv 2.0E-05 0.700 1.000 5 1991 2003
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: rs762060470
rs762060470
HEXA
1 1.000 0.120 15 72353686 splice region variant C/T snv 2.8E-05 9.1E-05 0.700 1.000 5 1991 2014
dbSNP: rs121907960
rs121907960
HEXA
3 1.000 0.120 15 72349148 inframe deletion GAA/- delins 0.700 1.000 4 1991 2005
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: rs121907964
rs121907964
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375895 stop gained C/T snv 0.700 1.000 4 1992 2014
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: rs786204721
rs786204721
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375971 start lost A/G snv 4.0E-06 7.0E-06 0.700 1.000 4 1985 2005
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: 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: 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: rs1555472406
rs1555472406
HEXA
1 1.000 0.120 15 72346578 frameshift variant -/GGAT delins 0.700 1.000 3 2011 2015
dbSNP: rs387906311
rs387906311
HEXA
2 0.925 0.120 15 72351132 splice donor variant C/T snv 4.0E-06 0.700 1.000 3 1993 2006