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: rs137852937
rs137852937
ALDH4A1
2 0.925 0.080 1 18877498 missense variant G/A;C snv 9.6E-05; 4.2E-06 0.800 1.000 2 1998 2012
dbSNP: rs387906314
rs387906314
ALDH4A1
1 1.000 0.080 1 18902503 frameshift variant C/- del 1.0E-05 7.0E-05 0.700 1.000 1 1998 1998
dbSNP: rs1557620472
rs1557620472
ALDH4A1
1 1.000 0.080 1 18885629 splice acceptor variant C/G snv 0.700 0
dbSNP: rs779536510
rs779536510
ALDH4A1
1 1.000 0.080 1 18874481 frameshift variant -/A delins 1.2E-05 0.700 0
dbSNP: rs78532707
rs78532707
ALDH4A1
1 1.000 0.080 1 18881699 splice donor variant C/A;G;T snv 4.0E-06; 4.0E-06; 6.8E-05 0.700 0