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: rs199475596
rs199475596
PAH
1.000 0.120 12 102855330 missense variant C/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475597
rs199475597
PAH
1.000 0.120 12 102866654 missense variant C/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475599
rs199475599
PAH
1.000 0.120 12 102877467 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475601
rs199475601
PAH
1.000 0.120 12 102866626 missense variant T/C;G snv 8.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475607
rs199475607
PAH
1.000 0.120 12 102840426 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475608
rs199475608
PAH
1.000 0.120 12 102851692 missense variant A/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475610
rs199475610
PAH
1.000 0.120 12 102852920 missense variant G/A;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475612
rs199475612
PAH
1.000 0.120 12 102866634 missense variant T/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475651
rs199475651
PAH
1.000 0.120 12 102894906 missense variant T/C snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs199475652
rs199475652
PAH
1.000 0.120 12 102855332 missense variant A/C;T snv 4.0E-06; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.710 1.000 20 1991 2012
dbSNP: rs199475664
rs199475664
PAH
1.000 0.120 12 102855295 missense variant C/G;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62507279
rs62507279
PAH
1.000 0.120 12 102844355 stop gained G/A;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62507282
rs62507282
PAH
1.000 0.120 12 102844377 missense variant C/G;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62508572
rs62508572
PAH
1.000 0.120 12 102855223 missense variant T/C snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62508577
rs62508577
PAH
1.000 0.120 12 102855150 missense variant G/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62508580
rs62508580
PAH
1.000 0.120 12 102844411 missense variant C/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62508593
rs62508593
PAH
1.000 0.120 12 102855228 missense variant T/G snv 2.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62508594
rs62508594
PAH
1.000 0.120 12 102852938 missense variant A/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62508615
rs62508615
PAH
1.000 0.120 12 102855164 missense variant C/A;G snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62508679
rs62508679
PAH
1.000 0.120 12 102844371 missense variant C/G;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62514903
rs62514903
PAH
0.925 0.120 12 102894812 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62514934
rs62514934
PAH
1.000 0.120 12 102855180 missense variant T/C snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 20 1991 2012
dbSNP: rs62514951
rs62514951
PAH
1.000 0.120 12 102852847 missense variant T/A snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62516060
rs62516060
PAH
0.925 0.120 12 102844404 missense variant G/A snv 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012
dbSNP: rs62516102
rs62516102
PAH
1.000 0.120 12 102843664 missense variant T/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.700 1.000 20 1991 2012