Source: BEFREE

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: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.010 1.000 1 1997 1997
dbSNP: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 1997 1997
dbSNP: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		0.010 1.000 1 1997 1997
dbSNP: rs104894275
rs104894275
PTS
0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		0.010 1.000 1 2001 2001
dbSNP: rs104894275
rs104894275
PTS
0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.010 1.000 1 1998 1998
dbSNP: rs104894276
rs104894276
PTS
0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		0.010 1.000 1 2001 2001
dbSNP: rs104894276
rs104894276
PTS
0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.010 1.000 1 1998 1998
dbSNP: rs104894277
rs104894277
PTS
0.925 0.120 11 112230210 missense variant G/A;C snv 1.6E-05; 8.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.010 1.000 1 1998 1998
dbSNP: rs104894280
rs104894280
PTS
0.925 0.120 11 112233205 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.010 1.000 1 1998 1998
dbSNP: rs1167104933
rs1167104933
PTS
0.925 0.120 11 112226516 stop gained C/G;T snv
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.010 1.000 1 1998 1998
dbSNP: rs200712908
rs200712908
PTS
0.925 0.120 11 112233434 missense variant C/T snv 1.2E-04 9.8E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.010 1.000 1 1998 1998