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: rs62514957
rs62514957
PAH
1.000 0.120 12 102846900 missense variant C/T snv 7.2E-05 4.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2017
dbSNP: rs62516062
rs62516062
PAH
1.000 0.120 12 102844368 missense variant C/A;T snv 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62516092
rs62516092
PAH
1.000 0.120 12 102844359 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2015
dbSNP: rs62516098
rs62516098
PAH
1.000 0.120 12 102843748 missense variant G/T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62516101
rs62516101
PAH
1.000 0.120 12 102843683 missense variant C/G;T snv 8.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.820 1.000 23 1991 2015
dbSNP: rs62516103
rs62516103
PAH
1.000 0.120 12 102843662 missense variant C/G snv 2.0E-05 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2014
dbSNP: rs62516109
rs62516109
PAH
1.000 0.120 12 102855204 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62516142
rs62516142
PAH
1.000 0.120 12 102843665 missense variant C/A;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62516149
rs62516149
PAH
1.000 0.120 12 102852831 missense variant T/A;C snv 3.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62516150
rs62516150
PAH
1.000 0.120 12 102844389 missense variant C/A snv 8.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62516155
rs62516155
PAH
1.000 0.120 12 102852827 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2016
dbSNP: rs62517163
rs62517163
PAH
1.000 0.120 12 102843731 missense variant T/A snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2016
dbSNP: rs62517164
rs62517164
PAH
1.000 0.120 12 102852846 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014
dbSNP: rs62517180
rs62517180
PAH
1.000 0.120 12 102855240 missense variant T/C snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2017
dbSNP: rs62517198
rs62517198
PAH
1.000 0.120 12 102855207 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62642928
rs62642928
PAH
1.000 0.120 12 102912838 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62642929
rs62642929
PAH
1.000 0.120 12 102894776 missense variant G/T snv 5.2E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2016
dbSNP: rs62642930
rs62642930
PAH
1.000 0.120 12 102852893 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62642932
rs62642932
PAH
1.000 0.120 12 102852882 missense variant C/T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62642935
rs62642935
PAH
1.000 0.120 12 102846938 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2016
dbSNP: rs62642939
rs62642939
PAH
0.925 0.120 12 102851709 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62642940
rs62642940
PAH
1.000 0.120 12 102846923 missense variant G/T snv 4.0E-06 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62642944
rs62642944
PAH
1.000 0.120 12 102852868 missense variant G/C snv 1.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014
dbSNP: rs74486803
rs74486803
PAH
0.925 0.120 12 102855315 missense variant C/A;G;T snv 5.2E-05; 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2016
dbSNP: rs74503222
rs74503222
PAH
1.000 0.120 12 102852912 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015