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: rs72554634
rs72554634 		1.000 0.120 X 75071516 missense variant A/C;T snv 1.6E-05
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.810 1.000 4 1999 2012
dbSNP: rs515726147
rs515726147 		1.000 0.120 X 75075593 missense variant T/A snv
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 4 1999 2012
dbSNP: rs80356713
rs80356713 		0.925 0.120 X 75070499 missense variant C/A;G snv
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs80356714
rs80356714 		1.000 0.120 X 75070433 missense variant C/T snv
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs1057518042
rs1057518042 		1.000 0.120 X 75070495 missense variant A/G snv
CUI: C1845028
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797044558
rs797044558 		0.925 0.160 X 75053585 missense variant C/T snv
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs797044558
rs797044558 		0.925 0.160 X 75053585 missense variant C/T snv
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs80356713
rs80356713 		0.925 0.120 X 75070499 missense variant C/A;G snv
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs80356713
rs80356713 		0.925 0.120 X 75070499 missense variant C/A;G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs866082104
rs866082104 		0.925 0.120 X 75053456 missense variant C/T snv
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs866082104
rs866082104 		0.925 0.120 X 75053456 missense variant C/T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs866082104
rs866082104 		0.925 0.120 X 75053456 missense variant C/T snv
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017