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: 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
dbSNP: rs1057517084
rs1057517084
FAH
1.000 0.120 15 80172151 frameshift variant T/-;TT delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 1 2012 2012
dbSNP: rs1247460110
rs1247460110
FAH
1.000 0.120 15 80158059 splice acceptor variant G/A;C snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 1 2014 2014
dbSNP: rs1297118863
rs1297118863
FAH
1.000 0.120 15 80186159 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 1 2010 2010
dbSNP: rs1555441703
rs1555441703
FAH
1.000 0.120 15 80173142 frameshift variant C/- del
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 1 2012 2012
dbSNP: rs750741137
rs750741137
FAH
1.000 0.120 15 80173049 frameshift variant G/- delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 1 2012 2012
dbSNP: rs771712041
rs771712041
FAH
1.000 0.120 15 80172148 splice acceptor variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 1.000 1 1996 1996
dbSNP: rs1057516333
rs1057516333
FAH
1.000 0.120 15 80186129 splice acceptor variant G/A snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1057516408
rs1057516408
FAH
1.000 0.120 15 80159878 splice donor variant G/A snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1057516631
rs1057516631
FAH
1.000 0.120 15 80186207 stop lost T/C;G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1057516684
rs1057516684
FAH
1.000 0.120 15 80168056 frameshift variant ACTTACCAGTGGGCTACCATGGCCGTGCCTC/- delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1057516934
rs1057516934
FAH
1.000 0.120 15 80153056 start lost T/A snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1057517113
rs1057517113
FAH
1.000 0.120 15 80168087 frameshift variant C/- delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0