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: rs199475579
rs199475579
PAH
1.000 0.120 12 102852917 missense variant C/A;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs199475582
rs199475582
PAH
1.000 0.120 12 102851755 missense variant C/T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs199475589
rs199475589
PAH
1.000 0.120 12 102855169 missense variant G/C;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2016
dbSNP: rs199475604
rs199475604
PAH
1.000 0.120 12 102855319 missense variant G/A;C snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014
dbSNP: rs199475609
rs199475609
PAH
1.000 0.120 12 102851700 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014
dbSNP: rs199475613
rs199475613
PAH
1.000 0.120 12 102855331 missense variant C/A;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs199475632
rs199475632
PAH
1.000 0.120 12 102855322 missense variant T/C snv 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2017
dbSNP: rs199475663
rs199475663
PAH
0.925 0.120 12 102866641 missense variant C/G;T snv 2.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs199475679
rs199475679
PAH
1.000 0.120 12 102866599 missense variant C/G;T snv 2.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2019
dbSNP: rs62507347
rs62507347
PAH
0.925 0.120 12 102894860 missense variant T/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62508582
rs62508582
PAH
1.000 0.120 12 102844370 missense variant C/A;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014
dbSNP: rs62508588
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2018
dbSNP: rs62508595
rs62508595
PAH
1.000 0.120 12 102843776 missense variant A/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014
dbSNP: rs62508694
rs62508694
PAH
1.000 0.120 12 102852924 missense variant C/G;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62508715
rs62508715
PAH
1.000 0.120 12 102852833 missense variant G/A;C snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 23 1991 2016
dbSNP: rs62508718
rs62508718
PAH
1.000 0.120 12 102855193 missense variant A/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014
dbSNP: rs62508721
rs62508721
PAH
1.000 0.120 12 102855222 missense variant T/C snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.710 1.000 23 1991 2014
dbSNP: rs62508730
rs62508730
PAH
1.000 0.120 12 102852935 missense variant C/A;T snv 4.0E-06; 1.7E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62508736
rs62508736
PAH
1.000 0.120 12 102843661 missense variant G/C;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62514902
rs62514902
PAH
1.000 0.120 12 102894837 missense variant C/A snv 8.0E-06 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62514919
rs62514919
PAH
1.000 0.120 12 102855273 missense variant A/G snv 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62514933
rs62514933
PAH
1.000 0.120 12 102855189 missense variant C/A snv 1.2E-05 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62514950
rs62514950
PAH
1.000 0.120 12 102852848 missense variant C/T snv 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2015
dbSNP: rs62514953
rs62514953
PAH
1.000 0.120 12 102852839 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 23 1991 2014
dbSNP: rs62514954
rs62514954
PAH
1.000 0.120 12 102852829 missense variant C/A;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 23 1991 2014