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: rs1057517091
rs1057517091
ALDOB
1 1.000 0.080 9 101426633 frameshift variant T/- del 0.700 0
dbSNP: rs118204425
rs118204425
ALDOB
1 1.000 0.080 9 101424975 inframe deletion AAG/- del 0.700 0
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: rs1057516534
rs1057516534
ALDOB
1 1.000 0.080 9 101430775 splice donor variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1554702328
rs1554702328
ALDOB
1 1.000 0.080 9 101424901 splice acceptor variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs786204598
rs786204598
ALDOB
1 1.000 0.080 9 101429964 splice acceptor variant CCTA/- delins 4.0E-06 2.8E-05 0.700 1.000 1 1990 1990
dbSNP: rs864309533
rs864309533
ALDOB
1 1.000 0.080 9 101424977 frameshift variant G/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1057517421
rs1057517421
ALDOB
1 1.000 0.080 9 101427602 frameshift variant T/- delins 4.0E-06 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: rs387906226
rs387906226
ALDOB
1 1.000 0.080 9 101426626 inframe deletion ACCAGT/- delins 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: 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
dbSNP: rs555935217
rs555935217
ALDOB
1 1.000 0.080 9 101424932 missense variant G/A snv 1.2E-05 2.1E-05 0.700 1.000 11 1988 2010
dbSNP: rs764701775
rs764701775
ALDOB
1 1.000 0.080 9 101425482 missense variant A/G snv 4.0E-06 0.700 1.000 11 1988 2010
dbSNP: rs781023784
rs781023784
ALDOB
1 1.000 0.080 9 101429858 missense variant A/G snv 4.0E-06 0.700 1.000 11 1988 2010
dbSNP: rs76917243
rs76917243
ALDOB
1 1.000 0.080 9 101427498 missense variant G/T snv 3.6E-04 3.0E-04 0.700 1.000 10 1990 2015
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: 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: rs370793608
rs370793608
ALDOB
1 1.000 0.080 9 101426567 stop gained A/C;T snv 7.0E-06 0.700 1.000 7 1993 2012