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: rs1057516379
rs1057516379
ALDOB
1 1.000 0.080 9 101429753 splice donor variant A/T snv 0.700 0
dbSNP: rs1057517091
rs1057517091
ALDOB
1 1.000 0.080 9 101426633 frameshift variant T/- del 0.700 0
dbSNP: rs1057517133
rs1057517133
ALDOB
1 1.000 0.080 9 101424954 stop gained C/T snv 0.700 0
dbSNP: rs1057517421
rs1057517421
ALDOB
1 1.000 0.080 9 101427602 frameshift variant T/- delins 4.0E-06 0.700 0
dbSNP: rs1172384674
rs1172384674
ALDOB
1 1.000 0.080 9 101424878 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs118204425
rs118204425
ALDOB
1 1.000 0.080 9 101424975 inframe deletion AAG/- del 0.700 0
dbSNP: rs118204426
rs118204426
ALDOB
1 1.000 0.080 9 101425532 stop gained G/T snv 0.700 0
dbSNP: rs118204430
rs118204430
ALDOB
1 1.000 0.080 9 101427580 missense variant A/C;G snv 4.0E-06; 2.8E-05 0.700 0
dbSNP: rs1300461861
rs1300461861
ALDOB
1 1.000 0.080 9 101427644 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs138121153
rs138121153
ALDOB
1 1.000 0.080 9 101428468 splice donor variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs1402966846
rs1402966846
ALDOB
1 1.000 0.080 9 101428524 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554702325
rs1554702325
ALDOB
1 1.000 0.080 9 101424901 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554702353
rs1554702353
ALDOB
1 1.000 0.080 9 101425030 frameshift variant A/- delins 0.700 0
dbSNP: rs1554702425
rs1554702425
ALDOB
1 1.000 0.080 9 101425539 frameshift variant -/G delins 0.700 0
dbSNP: rs1554702890
rs1554702890
ALDOB
1 1.000 0.080 9 101429792 frameshift variant T/- delins 0.700 0
dbSNP: rs1564077542
rs1564077542
ALDOB
1 1.000 0.080 9 101425628 splice acceptor variant C/T snv 0.700 0
dbSNP: rs199965465
rs199965465
ALDOB
1 1.000 0.080 9 101425044 splice acceptor variant T/G snv 1.6E-05 0.700 0
dbSNP: rs387906226
rs387906226
ALDOB
1 1.000 0.080 9 101426626 inframe deletion ACCAGT/- delins 0.700 0
dbSNP: rs900220679
rs900220679
ALDOB
1 1.000 0.080 9 101421809 stop lost C/G snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs78340951
rs78340951
ALDOB
1 1.000 0.080 9 101421899 missense variant G/A;C snv 4.0E-06; 1.2E-04 0.800 1.000 19 1988 2012
dbSNP: rs1800546
rs1800546
ALDOB
1 1.000 0.080 9 101427574 missense variant C/G snv 3.0E-03 3.1E-03 0.700 1.000 16 1983 2017
dbSNP: rs387906225
rs387906225
ALDOB
1 1.000 0.080 9 101428485 frameshift variant TGTT/- delins 7.0E-05 0.700 1.000 12 1990 2015
dbSNP: rs1554702433
rs1554702433
ALDOB
1 1.000 0.080 9 101425566 missense variant A/G snv 0.700 1.000 11 1988 2010
dbSNP: rs1554702442
rs1554702442
ALDOB
1 1.000 0.080 9 101425588 missense variant C/A snv 0.700 1.000 11 1988 2010
dbSNP: rs369586696
rs369586696
ALDOB
1 1.000 0.080 9 101421877 missense variant A/G snv 4.0E-06 2.1E-05 0.710 1.000 11 1988 2010