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: rs137852769
rs137852769
HADHA ; GAREM2
7 0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03 0.890 1.000 17 1994 2017
dbSNP: rs137852772
rs137852772
HADHA
1 1.000 0.200 2 26209840 missense variant A/G snv 0.800 1.000 2 1994 1997
dbSNP: rs137852775
rs137852775
HADHA
2 0.925 0.200 2 26214490 stop gained G/A snv 0.700 1.000 6 1998 2013
dbSNP: rs1057516460
rs1057516460
HADHA
2 0.925 0.200 2 26204190 splice acceptor variant GATGCCTGCA/- delins 0.700 1.000 5 1995 2012
dbSNP: rs1057516417
rs1057516417
HADHA
2 0.925 0.200 2 26234216 splice donor variant C/T snv 0.700 1.000 4 1995 2012
dbSNP: rs769580842
rs769580842
HADHA ; GAREM2
2 0.925 0.200 2 26193668 frameshift variant AT/- del 3.5E-05 0.700 1.000 4 2002 2018
dbSNP: rs781222705
rs781222705
HADHA
2 0.925 0.200 2 26238931 splice region variant T/C snv 5.2E-05 0.700 1.000 4 1995 2016
dbSNP: rs137852774
rs137852774
HADHA
2 0.925 0.200 2 26214447 missense variant A/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 3 1998 2017
dbSNP: rs137852770
rs137852770
HADHA
2 0.925 0.200 2 26204150 stop gained G/A snv 7.0E-06 0.700 1.000 2 1995 1999
dbSNP: rs137852771
rs137852771
HADHA ; GAREM2
2 0.925 0.200 2 26194581 stop gained G/A snv 2.4E-05 0.700 1.000 2 1996 2016
dbSNP: rs147103714
rs147103714
HADHA
1 1.000 0.200 2 26238957 stop gained G/A;T snv 8.0E-06; 6.4E-05 0.700 1.000 2 2011 2011
dbSNP: rs1553316176
rs1553316176
HADHA
1 1.000 0.200 2 26239139 frameshift variant A/- del 0.700 1.000 2 2004 2011
dbSNP: rs772683361
rs772683361
HADHA
1 1.000 0.200 2 26230190 splice donor variant A/G snv 1.6E-05 0.700 1.000 2 2011 2015
dbSNP: rs868816467
rs868816467
HADHA ; GAREM2
1 1.000 0.200 2 26191313 frameshift variant -/GTTT delins 3.5E-05 0.700 1.000 2 2002 2011
dbSNP: rs1057516217
rs1057516217
HADHA ; GAREM2
1 1.000 0.200 2 26193774 splice acceptor variant T/C snv 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs1243779049
rs1243779049
HADHA
1 1.000 0.200 2 26204087 stop gained G/A snv 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1458898996
rs1458898996
HADHA
1 1.000 0.200 2 26234356 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs200017313
rs200017313
HADHA
1 1.000 0.200 2 26212628 splice acceptor variant T/C snv 4.0E-05 3.5E-05 0.700 1.000 1 2005 2005
dbSNP: rs764557236
rs764557236
HADHA ; GAREM2
1 1.000 0.200 2 26195086 splice donor variant CCTTA/- delins 1.6E-05 0.700 1.000 1 1999 1999
dbSNP: rs779113356
rs779113356
HADHA ; GAREM2
2 0.925 0.200 2 26192343 frameshift variant A/- delins 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs786205088
rs786205088
HADHA
2 0.925 0.200 2 26238933 splice donor variant C/T snv 0.700 1.000 1 1995 1995
dbSNP: rs1057516233
rs1057516233
HADHA ; GAREM2
1 1.000 0.200 2 26201321 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1057516326
rs1057516326
HADHA
1 1.000 0.200 2 26236929 stop gained C/G;T snv 0.700 0
dbSNP: rs1057516350
rs1057516350
HADHA ; GAREM2
1 1.000 0.200 2 26191481 splice donor variant A/G snv 0.700 0
dbSNP: rs1057516461
rs1057516461
HADHA ; GAREM2
1 1.000 0.200 2 26201304 stop gained T/A snv 8.0E-06 0.700 0