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: 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
dbSNP: rs1057517201
rs1057517201
FAH
1.000 0.120 15 80177584 splice donor variant G/A snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1057517341
rs1057517341
FAH
1.000 0.120 15 80153066 frameshift variant C/- delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1057517436
rs1057517436
FAH
1.000 0.120 15 80173083 frameshift variant TC/- delins 7.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs121965076
rs121965076
FAH
1.000 0.120 15 80181069 stop gained G/T snv 2.4E-05 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555440522
rs1555440522
FAH
1.000 0.120 15 80159754 splice acceptor variant A/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555440603
rs1555440603
FAH
1.000 0.120 15 80160408 splice acceptor variant A/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555441251
rs1555441251
FAH
1.000 0.120 15 80168050 splice acceptor variant A/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555441272
rs1555441272
FAH
1.000 0.120 15 80168149 splice donor variant TG/- delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555441597
rs1555441597
FAH
1.000 0.120 15 80172250 splice donor variant T/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555441852
rs1555441852
FAH
1.000 0.120 15 80175022 frameshift variant -/TGGCCCCTGCC delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555441861
rs1555441861
FAH
1.000 0.120 15 80175060 frameshift variant -/T delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555442289
rs1555442289
FAH
1.000 0.120 15 80180122 splice acceptor variant A/C snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs1555442385
rs1555442385
FAH
1.000 0.120 15 80181040 splice acceptor variant A/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0