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: rs121913131
rs121913131
HADHB
1 1.000 0.200 2 26279292 missense variant A/G snv 0.800 1.000 3 1996 2003
dbSNP: rs121913132
rs121913132
HADHB
1 1.000 0.200 2 26263452 missense variant G/A snv 6.4E-05 4.9E-05 0.800 1.000 3 1996 2003
dbSNP: rs121913133
rs121913133
HADHB
1 1.000 0.200 2 26279244 missense variant G/A;T snv 1.2E-05 0.800 1.000 3 1996 2003
dbSNP: rs121913134
rs121913134
HADHB
1 1.000 0.200 2 26285513 missense variant G/A snv 0.800 1.000 3 1996 2003
dbSNP: rs137852773
rs137852773
HADHA
1 1.000 0.200 2 26214516 missense variant A/T snv 4.0E-06 0.800 1.000 1 1998 1998
dbSNP: rs137852774
rs137852774
HADHA
2 0.925 0.200 2 26214447 missense variant A/G;T snv 4.0E-06; 8.0E-06 0.800 1.000 1 1998 1998
dbSNP: rs891954464
rs891954464
HADHB
1 1.000 0.200 2 26280083 missense variant G/A;C snv 4.0E-06 7.0E-06 0.800 0
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
7 0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03 0.790 1.000 13 1994 2017
dbSNP: rs1057516460
rs1057516460
HADHA
2 0.925 0.200 2 26204190 splice acceptor variant GATGCCTGCA/- delins 0.700 1.000 5 1995 2012
dbSNP: rs1167218743
rs1167218743
HADHA ; GAREM2
2 0.925 0.200 2 26192309 splice donor variant C/A;G snv 7.0E-06 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: rs781205883
rs781205883
HADHA
1 1.000 0.200 2 26236891 frameshift variant GAGAT/- delins 8.0E-06 7.0E-06 0.700 1.000 4 1999 2012
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: rs371159065
rs371159065
HADHB
1 1.000 0.200 2 26277115 missense variant A/C;G snv 8.0E-06; 1.1E-04 0.700 1.000 3 1996 2003
dbSNP: rs769580842
rs769580842
HADHA ; GAREM2
2 0.925 0.200 2 26193668 frameshift variant AT/- del 3.5E-05 0.700 1.000 3 2002 2003
dbSNP: rs773127211
rs773127211
HADHB
1 1.000 0.200 2 26277080 missense variant T/C snv 8.0E-06 2.1E-05 0.700 1.000 3 1996 2003
dbSNP: rs786204607
rs786204607
HADHA
1 1.000 0.200 2 26215149 missense variant G/A snv 0.700 1.000 3 2009 2012
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: rs779113356
rs779113356
HADHA ; GAREM2
2 0.925 0.200 2 26192343 frameshift variant A/- delins 4.0E-06 0.700 1.000 2 1999 2011
dbSNP: rs113112630
rs113112630
HADHB
1 1.000 0.200 2 26263480 splice donor variant G/A snv 8.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs749848370
rs749848370
HADHA ; GAREM2
1 1.000 0.200 2 26192311 frameshift variant TAGGAGGCAGCTTCAGACT/- delins 1.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs759136382
rs759136382
HADHB
1 1.000 0.200 2 26279189 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs1166120479
rs1166120479
HADHB
1 1.000 0.200 2 26279229 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs137852770
rs137852770
HADHA
2 0.925 0.200 2 26204150 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs137852775
rs137852775
HADHA
2 0.925 0.200 2 26214490 stop gained G/A snv 0.700 0