GSTZ1, glutathione S-transferase zeta 1, 2954

N. diseases: 38; N. variants: 10
Disease: Deficiency of maleylacetoacetate isomerase ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140540096
rs140540096 		1.000 14 77327990 missense variant G/A snv 5.0E-04 5.0E-04
CUI: C1291607
Disease: Deficiency of maleylacetoacetate isomerase
Deficiency of maleylacetoacetate isomerase 		0.700 0
dbSNP: rs199552988
rs199552988 		1.000 14 77329782 missense variant C/T snv 7.2E-05 4.9E-05
CUI: C1291607
Disease: Deficiency of maleylacetoacetate isomerase
Deficiency of maleylacetoacetate isomerase 		0.700 0
dbSNP: rs776678047
rs776678047 		1.000 14 77326826 non coding transcript exon variant G/A;T snv 1.3E-05
CUI: C1291607
Disease: Deficiency of maleylacetoacetate isomerase
Deficiency of maleylacetoacetate isomerase 		0.700 0