Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75391579
rs75391579
0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.900 0.962 1 1991 2018
dbSNP: rs2070074
rs2070074
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.890 1.000 20 1991 2016
dbSNP: rs111033690
rs111033690
0.882 0.120 9 34647858 missense variant C/G;T snv 4.0E-06; 2.5E-04
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.850 1.000 1 1992 2017
dbSNP: rs111033773
rs111033773
0.882 0.200 9 34649032 missense variant G/T snv 1.4E-04 1.7E-04
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.840 1.000 21 1991 2016
dbSNP: rs111033635
rs111033635
1.000 0.120 9 34646771 missense variant A/G snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.810 1.000 21 1991 2016
dbSNP: rs111033781
rs111033781
0.925 0.120 9 34649058 missense variant T/A snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.810 1.000 1 1999 2012
dbSNP: rs111033636
rs111033636
1.000 0.120 9 34646786 missense variant G/A;C;T snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033644
rs111033644
1.000 0.120 9 34647101 missense variant T/A snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033646
rs111033646
1.000 0.120 9 34647119 splice acceptor variant A/C snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033647
rs111033647
1.000 0.120 9 34647136 missense variant G/A;T snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033648
rs111033648
1.000 0.120 9 34647158 missense variant G/A;T snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033658
rs111033658
1.000 0.120 9 34647205 missense variant C/T snv 1.4E-05
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033663
rs111033663
1.000 0.120 9 34647227 missense variant T/C;G snv 4.0E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033666
rs111033666
1.000 0.120 9 34647504 missense variant T/C;G snv 4.0E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033670
rs111033670
1.000 0.120 9 34647531 missense variant G/A;C snv 3.6E-05; 4.0E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2017
dbSNP: rs111033673
rs111033673
1.000 0.120 9 34647682 missense variant A/C snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033674
rs111033674
1.000 0.120 9 34647695 stop gained C/G;T snv 1.2E-05
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033675
rs111033675
1.000 0.120 9 34647696 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033677
rs111033677
1.000 0.120 9 34647665 missense variant G/A snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033678
rs111033678
1.000 0.120 9 34647669 missense variant A/C;T snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033774
rs111033774
1.000 0.120 9 34649042 missense variant C/T snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033775
rs111033775
1.000 0.120 9 34649043 missense variant T/G snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs111033778
rs111033778
1.000 0.120 9 34649010 missense variant T/A;C snv 7.2E-05
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs367543252
rs367543252
1.000 0.120 9 34647547 missense variant A/G snv
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016
dbSNP: rs367543256
rs367543256
1.000 0.120 9 34647850 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.800 1.000 21 1991 2016