Source: BEFREE

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: rs1460260991
rs1460260991
ALAS1
1.000 0.040 3 52203996 synonymous variant A/G snv 4.1E-06
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.010 1.000 1 1998 1998
dbSNP: rs200361165
rs200361165
ALAS1
1.000 0.040 3 52212412 missense variant A/C;G snv 1.2E-05
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.010 1.000 1 1999 1999
dbSNP: rs352165
rs352165
ALAS1
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 		0.010 1.000 1 2019 2019
dbSNP: rs352165
rs352165
ALAS1
0.925 0.120 3 52208886 intron variant A/C;G snv 0.47
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2019 2019