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: 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: 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: rs1057516417
rs1057516417
HADHA
2 0.925 0.200 2 26234216 splice donor variant C/T snv 0.700 1.000 4 1995 2012
dbSNP: rs1057516460
rs1057516460
HADHA
2 0.925 0.200 2 26204190 splice acceptor variant GATGCCTGCA/- delins 0.700 1.000 5 1995 2012
dbSNP: rs1057516461
rs1057516461
HADHA ; GAREM2
1 1.000 0.200 2 26201304 stop gained T/A snv 8.0E-06 0.700 0
dbSNP: rs1057516556
rs1057516556
HADHA
1 1.000 0.200 2 26209813 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516734
rs1057516734
HADHA ; GAREM2
1 1.000 0.200 2 26201196 frameshift variant CA/- delins 0.700 0
dbSNP: rs1057516991
rs1057516991
HADHA ; GAREM2
1 1.000 0.200 2 26195122 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs1057517087
rs1057517087
HADHA
1 1.000 0.200 2 26204080 frameshift variant T/- del 0.700 0
dbSNP: rs1057517132
rs1057517132
HADHA ; GAREM2
1 1.000 0.200 2 26191558 stop gained C/A snv 0.700 0
dbSNP: rs1057517282
rs1057517282
HADHA
1 1.000 0.200 2 26232218 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517397
rs1057517397
HADHA ; GAREM2
1 1.000 0.200 2 26192392 frameshift variant AGAT/- delins 0.700 0
dbSNP: rs1057517430
rs1057517430
HADHA ; HADHB
1 1.000 0.200 2 26244596 start lost T/C snv 0.700 0
dbSNP: rs1167218743
rs1167218743
HADHA ; GAREM2
2 0.925 0.200 2 26192309 splice donor variant C/A;G snv 7.0E-06 0.700 0
dbSNP: rs1237270916
rs1237270916
HADHA ; HADHB
1 1.000 0.200 2 26244594 start lost C/T snv 0.700 0
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: rs1290945516
rs1290945516
HADHA ; GAREM2
1 1.000 0.200 2 26197690 splice donor variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1298883200
rs1298883200
HADHA
1 1.000 0.200 2 26238984 frameshift variant -/A delins 0.700 0
dbSNP: rs1300516636
rs1300516636
HADHA ; HADHB
1 1.000 0.200 2 26244533 stop gained G/A;T snv 1.0E-05 0.700 0
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: 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: rs137852772
rs137852772
HADHA
1 1.000 0.200 2 26209840 missense variant A/G snv 0.800 1.000 2 1994 1997