ALAS1, 5'-aminolevulinate synthase 1, 211

N. diseases: 27; N. variants: 3
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
dbSNP: rs352165
rs352165 		0.925 0.120 3 52208886 intron variant A/C;G snv 0.47
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs352165
rs352165 		0.925 0.120 3 52208886 intron variant A/C;G snv 0.47
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019