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: rs137852870
rs137852870
BCKDHA
2 0.925 0.120 19 41424582 missense variant T/A snv 6.4E-05 1.3E-04 0.820 1.000 18 1989 2014
dbSNP: rs386834233
rs386834233
BCKDHB
1 1.000 0.120 6 80201023 missense variant G/A snv 5.5E-04 6.0E-04 0.810 1.000 6 1993 2012
dbSNP: rs398123503
rs398123503
BCKDHA
1 1.000 0.120 19 41419282 missense variant C/T snv 2.4E-05 7.0E-06 0.810 1.000 5 2000 2019
dbSNP: rs137852871
rs137852871
BCKDHA
2 1.000 0.120 19 41422643 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.800 1.000 16 1989 2015
dbSNP: rs199599175
rs199599175
BCKDHA
1 1.000 0.120 19 41422274 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 12 1989 2014
dbSNP: rs79761867
rs79761867
BCKDHB
2 0.925 0.120 6 80168945 missense variant G/A;C snv 4.0E-06; 2.3E-04 0.800 1.000 8 1993 2015
dbSNP: rs121964999
rs121964999
DBT
3 0.882 0.120 1 100214929 missense variant A/C snv 1.1E-04 1.0E-04 0.800 1.000 7 1991 2014
dbSNP: rs375785084
rs375785084
BCKDHA
1 1.000 0.120 19 41422176 missense variant C/T snv 8.0E-06 2.1E-05 0.800 1.000 6 2006 2015
dbSNP: rs182923857
rs182923857
BCKDHA
1 1.000 0.120 19 41423038 missense variant C/T snv 1.3E-05 7.0E-06 0.800 1.000 2 2011 2012
dbSNP: rs185492864
rs185492864
DBT
2 0.925 0.120 1 100214855 missense variant G/A;C snv 5.1E-04; 8.0E-06 0.710 1.000 4 2010 2016
dbSNP: rs371518124
rs371518124
BCKDHB
1 1.000 0.120 6 80168906 missense variant G/A;C snv 3.2E-05; 2.0E-05; 4.0E-06 0.710 1.000 4 1993 2014
dbSNP: rs749033513
rs749033513
BCKDHB
1 1.000 0.120 6 80168900 missense variant G/A;T snv 4.0E-06 0.710 1.000 3 2006 2017
dbSNP: rs769688327
rs769688327
BCKDHA
1 1.000 0.120 19 41414148 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 10 1989 2014
dbSNP: rs137852872
rs137852872
BCKDHA
3 0.925 0.120 19 41424496 missense variant T/G snv 0.700 1.000 9 1989 2011
dbSNP: rs398124598
rs398124598
BCKDHB
1 1.000 0.120 6 80203114 stop gained C/T snv 4.4E-05 1.5E-04 0.700 1.000 7 2003 2014
dbSNP: rs398124587
rs398124587
BCKDHB
1 1.000 0.120 6 80168990 frameshift variant AG/- delins 0.700 1.000 6 1973 2016
dbSNP: rs398124603
rs398124603
BCKDHB
1 1.000 0.120 6 80273153 stop gained C/T snv 6.0E-05 1.4E-05 0.700 1.000 6 1997 2015
dbSNP: rs398123489
rs398123489
BCKDHA
1 1.000 0.120 19 41410639 frameshift variant C/-;CC;CCC delins 0.700 1.000 5 1998 2015
dbSNP: rs768832921
rs768832921
DBT
2 0.925 0.120 1 100240860 frameshift variant AT/- del 6.8E-05 4.2E-05 0.700 1.000 5 1993 2017
dbSNP: rs398123490
rs398123490
BCKDHA
2 0.925 0.120 19 41424504 missense variant G/A snv 1.4E-05 0.700 1.000 4 2003 2015
dbSNP: rs398123508
rs398123508
BCKDHA
1 1.000 0.120 19 41422370 missense variant G/C snv 3.2E-05 8.4E-05 0.700 1.000 4 1998 2015
dbSNP: rs398124581
rs398124581
BCKDHB
1 1.000 0.120 6 80168905 missense variant C/A;G;T snv 1.2E-05; 2.0E-05; 8.0E-06 0.700 1.000 4 2015 2017
dbSNP: rs398124589
rs398124589
BCKDHB
1 1.000 0.120 6 80169031 splice donor variant G/A;C;T snv 1.2E-05 1.4E-05 0.700 1.000 4 1994 2015
dbSNP: rs398124593
rs398124593
BCKDHB
1 1.000 0.120 6 80200943 missense variant T/A;C snv 0.700 1.000 4 2001 2009
dbSNP: rs398124594
rs398124594
BCKDHB
1 1.000 0.120 6 80200990 stop gained C/G;T snv 8.0E-06; 8.0E-06 0.700 1.000 4 2004 2014