ALAS1, 5'-aminolevulinate synthase 1, 211

N. diseases: 27; N. variants: 3
Disease: Sideroblastic anemia ×
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: rs1460260991
rs1460260991 		1.000 0.040 3 52203996 synonymous variant A/G snv 4.1E-06
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs200361165
rs200361165 		1.000 0.040 3 52212412 missense variant A/C;G snv 1.2E-05
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 1999 1999