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: rs118203914
rs118203914
1.000 0.120 16 71576247 stop gained G/A snv 4.0E-06
Tyrosine Transaminase Deficiency Disease
0.700 1.000 1 1998 1998
dbSNP: rs1555538156
rs1555538156
1.000 0.120 16 71576238 frameshift variant -/A delins
Tyrosine Transaminase Deficiency Disease
0.700 1.000 1 2017 2017
dbSNP: rs113758103
rs113758103
1.000 0.120 16 71570267 splice donor variant A/G;T snv
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs118203915
rs118203915
1.000 0.120 16 71572224 stop gained G/C snv
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs1426882225
rs1426882225
1.000 0.120 16 71576415 start lost T/C snv 4.0E-06
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs1555537662
rs1555537662
1.000 0.120 16 71569853 splice donor variant C/A snv
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs1555537673
rs1555537673
1.000 0.120 16 71569932 frameshift variant A/- del
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs1555537741
rs1555537741
1.000 0.120 16 71570667 splice donor variant TATTATCACCTCATTGCCA/- delins
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs1555537814
rs1555537814
1.000 0.120 16 71571659 splice acceptor variant C/T snv
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs1555537871
rs1555537871
1.000 0.120 16 71572326 splice acceptor variant T/C snv
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs1555538138
rs1555538138
1.000 0.120 16 71575920 splice donor variant A/G snv
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs587776511
rs587776511
1.000 0.120 16 71569894 missense variant C/A snv
Tyrosine Transaminase Deficiency Disease
0.800 0
dbSNP: rs587776512
rs587776512
1.000 0.120 16 71576031 splice region variant T/C snv
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs748924248
rs748924248
1.000 0.120 16 71576180 splice donor variant C/T snv 8.0E-06 7.0E-06
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs746077579
rs746077579
1.000 0.120 16 71576189 frameshift variant -/G delins 7.0E-06
Tyrosine Transaminase Deficiency Disease
0.700 0
dbSNP: rs118203916
rs118203916
1.000 0.120 16 71568260 stop gained G/A snv 7.0E-06
Tyrosine Transaminase Deficiency Disease
0.700 1.000 2 1992 2006
dbSNP: rs761817519
rs761817519
1.000 0.120 16 71568212 missense variant G/A snv 1.2E-05 7.0E-06
Tyrosine Transaminase Deficiency Disease
0.700 1.000 3 1998 2017
dbSNP: rs775488556
rs775488556
1.000 0.120 16 71568211 missense variant C/T snv 2.8E-05 1.4E-05
Tyrosine Transaminase Deficiency Disease
0.700 1.000 1 1998 1998