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: rs794727847
rs794727847
BCKDHA
2 0.925 0.120 19 41422634 frameshift variant AGGCCCCG/- delins 0.700 1.000 8 1994 2016
dbSNP: rs137852870
rs137852870
BCKDHA
2 0.925 0.120 19 41424582 missense variant T/A snv 6.4E-05 1.3E-04 0.700 1.000 4 1989 2004
dbSNP: rs1555767285
rs1555767285
BCKDHA
2 0.925 0.120 19 41424436 splice acceptor variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs137852872
rs137852872
BCKDHA
3 0.925 0.120 19 41424496 missense variant T/G snv 0.700 0
dbSNP: rs137852873
rs137852873
BCKDHA
1 1.000 0.120 19 41422310 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs137852874
rs137852874
BCKDHA
1 1.000 0.120 19 41422262 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137852875
rs137852875
BCKDHA
1 1.000 0.120 19 41422704 missense variant C/G snv 8.0E-06 0.700 0
dbSNP: rs137852876
rs137852876
BCKDHA
1 1.000 0.120 19 41422309 missense variant C/G snv 4.0E-06 0.700 0
dbSNP: rs398123490
rs398123490
BCKDHA
2 0.925 0.120 19 41424504 missense variant G/A snv 1.4E-05 0.700 0