GPI, glucose-6-phosphate isomerase, 2821

N. diseases: 218; N. variants: 33
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY ×
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: rs137853582
rs137853582 		1.000 19 34377575 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs137853583
rs137853583 		0.827 0.080 19 34394044 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs137853584
rs137853584 		1.000 19 34399933 missense variant T/C;G snv 2.8E-05; 4.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs137853585
rs137853585 		1.000 19 34399974 missense variant G/A snv
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs267606851
rs267606851 		1.000 19 34394032 missense variant A/G snv 1.6E-05
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs267606852
rs267606852 		1.000 19 34365280 missense variant C/T snv 7.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs267606853
rs267606853 		1.000 19 34396362 missense variant C/G snv
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs61754634
rs61754634 		1.000 19 34378971 missense variant C/T snv 2.0E-05 4.9E-05
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.800 1.000 7 1993 2018
dbSNP: rs137853586
rs137853586 		0.925 19 34365325 missense variant A/C snv 1.3E-05
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs137853587
rs137853587 		0.925 19 34394020 missense variant T/C snv
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs139382538
rs139382538 		1.000 19 34396404 missense variant A/G snv 7.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs1426869331
rs1426869331 		1.000 19 34377832 missense variant C/T snv 7.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs1435398228
rs1435398228 		1.000 19 34393760 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs148811525
rs148811525 		1.000 19 34399572 missense variant G/A snv 7.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs34306618
rs34306618 		1.000 19 34393276 missense variant C/T snv 4.4E-05 7.0E-05
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs757341382
rs757341382 		1.000 19 34368601 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 1.000 7 1993 2018
dbSNP: rs1246980119
rs1246980119 		1.000 19 34366792 missense variant A/G snv
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0
dbSNP: rs1250029517
rs1250029517 		1.000 19 34393261 missense variant G/A snv
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0
dbSNP: rs1364382189
rs1364382189 		0.925 0.080 19 34399571 missense variant C/T snv
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0
dbSNP: rs374583873
rs374583873 		0.925 0.080 19 34399616 missense variant C/T snv 4.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0
dbSNP: rs758132799
rs758132799 		1.000 19 34394043 missense variant C/T snv 2.0E-05 4.2E-05
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0
dbSNP: rs774419705
rs774419705 		1.000 19 34399273 stop gained C/G;T snv 4.0E-06 3.5E-05
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0
dbSNP: rs900848255
rs900848255 		1.000 19 34399727 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0
dbSNP: rs983725326
rs983725326 		1.000 19 34366816 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C3150730
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		0.700 0