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: rs1057516534
rs1057516534
ALDOB
1 1.000 0.080 9 101430775 splice donor variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1057516902
rs1057516902
ALDOB
1 1.000 0.080 9 101427578 stop gained C/T snv 0.700 1.000 1 2008 2008
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: rs118204428
rs118204428
ALDOB
1 1.000 0.080 9 101430878 stop gained G/A snv 4.0E-06 0.700 1.000 7 1994 2010
dbSNP: rs118204429
rs118204429
ALDOB
1 1.000 0.080 9 101429901 stop gained G/A;T snv 8.4E-05; 1.2E-05 0.700 1.000 7 1994 2015
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: rs137854523
rs137854523
ANO5
4 0.851 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04 0.700 1.000 7 2010 2015
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: rs145078268
rs145078268
ALDOB
1 1.000 0.080 9 101424931 missense variant C/G;T snv 4.0E-06; 2.1E-04 0.700 1.000 3 2000 2013
dbSNP: rs1554702325
rs1554702325
ALDOB
1 1.000 0.080 9 101424901 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554702328
rs1554702328
ALDOB
1 1.000 0.080 9 101424901 splice acceptor variant -/A delins 0.700 1.000 1 2012 2012
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: 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: rs1554702666
rs1554702666
ALDOB
1 1.000 0.080 9 101427643 splice acceptor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1554702890
rs1554702890
ALDOB
1 1.000 0.080 9 101429792 frameshift variant T/- delins 0.700 0