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: rs1555473138
rs1555473138
HEXA
1 1.000 0.120 15 72353688 splice donor variant -/A delins 0.700 1.000 1 1997 1997
dbSNP: rs587779407
rs587779407
HEXA
1 1.000 0.120 15 72350604 frameshift variant -/A ins 0.700 0
dbSNP: rs1555472161
rs1555472161
HEXA
1 1.000 0.120 15 72344117 frameshift variant -/G delins 0.700 1.000 2 1997 1999
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: rs1555472406
rs1555472406
HEXA
1 1.000 0.120 15 72346578 frameshift variant -/GGAT delins 0.700 1.000 3 2011 2015
dbSNP: rs786204515
rs786204515
HEXA
1 1.000 0.120 15 72349117 stop gained -/T delins 0.700 1.000 1 2005 2005
dbSNP: rs1057517296
rs1057517296
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375911 frameshift variant -/TC delins 0.700 0
dbSNP: rs1567295184
rs1567295184
HEXA
1 1.000 0.120 15 72345473 frameshift variant A/- delins 0.700 1.000 2 2003 2017
dbSNP: rs1057519458
rs1057519458
HEXA
1 1.000 0.120 15 72353724 frameshift variant A/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057516850
rs1057516850
HEXA
1 1.000 0.120 15 72353173 frameshift variant A/- delins 0.700 0
dbSNP: rs756040251
rs756040251
HEXA
1 1.000 0.120 15 72349088 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs121907975
rs121907975
HEXA
1 1.000 0.120 15 72355591 missense variant A/C snv 0.800 1.000 0 1988 2016
dbSNP: rs121907979
rs121907979
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375857 missense variant A/C snv 0.800 1.000 0 1988 2016
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: rs1057519461
rs1057519461
HEXA
1 1.000 0.120 15 72351168 missense variant A/G snv 0.700 0
dbSNP: rs121907974
rs121907974
HEXA
1 1.000 0.120 15 72351173 missense variant A/G snv 0.800 1.000 0 1988 2016
dbSNP: rs1555472262
rs1555472262
HEXA
1 1.000 0.120 15 72345444 splice donor variant A/G snv 0.700 0
dbSNP: rs1057517348
rs1057517348
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375948 frameshift variant AA/- delins 0.700 0
dbSNP: rs770628999
rs770628999
HEXA ; HEXA-AS1
1 1.000 0.120 15 72375713 splice donor variant ACTCACCTGTGAGGTAAGGACGGG/- delins 8.0E-06 0.700 0
dbSNP: rs1555473070
rs1555473070
HEXA
1 1.000 0.120 15 72353086 frameshift variant AG/- delins 0.700 0
dbSNP: rs751248523
rs751248523
HEXA
1 1.000 0.120 15 72349135 frameshift variant AG/- delins 5.2E-05 7.0E-06 0.700 0
dbSNP: rs777042785
rs777042785
HEXA
1 1.000 0.120 15 72346549 frameshift variant AT/- delins 8.0E-06 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs766138785
rs766138785
HEXA
1 1.000 0.120 15 72347709 frameshift variant C/- delins 2.1E-05 0.700 1.000 2 2005 2006
dbSNP: rs1057517174
rs1057517174
HEXA
1 1.000 0.120 15 72353714 frameshift variant C/- del 2.1E-05 0.700 1.000 1 1992 1992
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