Source: CURATED

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: rs80338894
rs80338894
FAH
1.000 0.120 15 80158170 missense variant G/A;T snv 4.0E-06; 6.4E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 22 1992 2016
dbSNP: rs80338898
rs80338898
FAH
1.000 0.120 15 80173089 missense variant C/T snv 1.7E-04 5.6E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 18 1992 2013
dbSNP: rs80338900
rs80338900
FAH
1.000 0.120 15 80180172 missense variant G/A snv 7.2E-05 6.3E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 18 1992 2014
dbSNP: rs778387055
rs778387055
FAH
1.000 0.120 15 80168093 missense variant T/G snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 17 1992 2011
dbSNP: rs121965074
rs121965074
FAH
0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 16 1992 2009
dbSNP: rs779040832
rs779040832
FAH
1.000 0.120 15 80180188 missense variant C/T snv 1.6E-05; 4.5E-05 7.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 15 1992 2009
dbSNP: rs121965073
rs121965073
FAH
1.000 0.120 15 80153101 missense variant A/G;T snv 8.0E-06; 2.8E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 14 1992 2009
dbSNP: rs121965077
rs121965077
FAH
1.000 0.120 15 80181120 missense variant A/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 14 1992 2009
dbSNP: rs121965078
rs121965078
FAH
0.925 0.120 15 80173143 missense variant A/G snv 7.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 14 1992 2009
dbSNP: rs80338897
rs80338897
FAH
1.000 0.120 15 80172240 missense variant A/T snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.800 1.000 14 1992 2009
dbSNP: rs1555441595
rs1555441595
FAH
1.000 0.120 15 80172242 missense variant T/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.710 1.000 14 1992 2009
dbSNP: rs769550316
rs769550316
FAH
1.000 0.120 15 80173016 stop gained C/T snv 1.2E-05 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.710 1.000 1 1996 2012
dbSNP: rs80338901
rs80338901
FAH
1.000 0.120 15 80180230 missense variant G/A snv 3.7E-04 2.7E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 18 1993 2017
dbSNP: rs80338895
rs80338895
FAH
1.000 0.120 15 80168263 splice acceptor variant G/C;T snv 1.5E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 15 1996 2015
dbSNP: rs370634385
rs370634385
FAH
1.000 0.120 15 80175058 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 14 1992 2009
dbSNP: rs754196530
rs754196530
FAH
1.000 0.120 15 80172162 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 14 1992 2009
dbSNP: rs121965075
rs121965075
FAH
1.000 0.120 15 80181048 stop gained G/T snv 2.8E-05 7.7E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 10 1993 2015
dbSNP: rs80338899
rs80338899
FAH
0.925 0.120 15 80173093 stop gained G/A snv 8.0E-05 9.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 6 1994 2005
dbSNP: rs781496816
rs781496816
FAH
1.000 0.120 15 80168116 stop gained C/T snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 5 1996 2012
dbSNP: rs1057517972
rs1057517972
FAH
1.000 0.120 15 80153055 start lost A/G snv 8.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 3 2005 2013
dbSNP: rs149052294
rs149052294
FAH
1.000 0.120 15 80173013 splice acceptor variant G/A;T snv 2.4E-05; 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 3 2002 2011
dbSNP: rs970505762
rs970505762
FAH
1.000 0.120 15 80180190 missense variant G/A;T snv 1.2E-05 5.6E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 3 2011 2013
dbSNP: rs786204551
rs786204551
FAH
1.000 0.120 15 80186139 frameshift variant A/- del 1.4E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 2 1999 2011
dbSNP: rs786204683
rs786204683
FAH
1.000 0.120 15 80158171 splice donor variant G/T snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 2 1998 2015
dbSNP: rs1057516679
rs1057516679
FAH
1.000 0.120 15 80162336 stop gained G/A;C snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 1 2012 2012