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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: rs886044640
rs886044640
FAH
1.000 0.120 15 80180126 stop gained C/A snv 7.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
dbSNP: rs533540262
rs533540262
FAH
1.000 0.120 15 80172238 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.700 0
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: 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: 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: 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