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: rs397514756
rs397514756 		0.925 0.120 2 219216084 missense variant A/G snv
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.800 1.000 4 2013 2014
dbSNP: rs397514757
rs397514757 		1.000 2 219218166 missense variant T/C snv
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.800 1.000 4 2013 2014
dbSNP: rs397514758
rs397514758 		0.925 0.120 2 219213310 missense variant C/T snv
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.800 1.000 4 2013 2014
dbSNP: rs796065353
rs796065353 		1.000 2 219213495 stop gained G/A;T snv
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.800 1.000 4 2013 2014
dbSNP: rs148211042
rs148211042 		1.000 0.040 2 219210799 missense variant C/T snv 7.7E-04 7.5E-04
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		Nutritional and Metabolic Diseases 0.800 1.000 2 2013 2014
dbSNP: rs754667801
rs754667801 		1.000 0.040 2 219216027 missense variant C/T snv 2.1E-05; 4.3E-06 1.4E-05
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		Nutritional and Metabolic Diseases 0.800 1.000 2 2013 2014
dbSNP: rs764893806
rs764893806 		1.000 0.040 2 219216028 missense variant G/A snv 4.2E-06
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		Nutritional and Metabolic Diseases 0.800 1.000 2 2013 2014
dbSNP: rs387906910
rs387906910 		1.000 2 219210036 missense variant G/C snv
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.800 1.000 1 2012 2012
dbSNP: rs387906911
rs387906911 		1.000 2 219218505 missense variant C/T snv 1.9E-04 2.8E-05
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.800 1.000 1 2012 2012
dbSNP: rs57467915
rs57467915 		2 219216694 missense variant G/A snv 8.8E-03 9.6E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs57467915
rs57467915 		2 219216694 missense variant G/A snv 8.8E-03 9.6E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs57467915
rs57467915 		2 219216694 missense variant G/A snv 8.8E-03 9.6E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs765925019
rs765925019 		2 219216027 frameshift variant GATCCGC/-;GATCCGCGATCCGC delins 3.0E-05
CUI: C4023620
Disease: Blood group antigen abnormality
Blood group antigen abnormality 		0.700 0
dbSNP: rs879255549
rs879255549 		2 219213503 splice acceptor variant C/T snv
CUI: C4023620
Disease: Blood group antigen abnormality
Blood group antigen abnormality 		0.700 0
dbSNP: rs775163137
rs775163137 		1.000 0.120 2 219218324 missense variant G/A snv 4.0E-06
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs1390458638
rs1390458638 		0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1390458638
rs1390458638 		0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1458320839
rs1458320839 		2 219218640 missense variant C/A;T snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs200246711
rs200246711 		2 219216057 missense variant C/A;T snv 2.0E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1995 1995
dbSNP: rs3731885
rs3731885 		1.000 0.040 2 219219747 3 prime UTR variant G/A snv 1.3E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3755047
rs3755047 		1.000 0.040 2 219220142 3 prime UTR variant G/A snv 3.0E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs397514756
rs397514756 		0.925 0.120 2 219216084 missense variant A/G snv
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs397514758
rs397514758 		0.925 0.120 2 219213310 missense variant C/T snv
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs541845688
rs541845688 		0.925 0.160 2 219210782 missense variant C/T snv 4.4E-05 7.0E-06
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs541845688
rs541845688 		0.925 0.160 2 219210782 missense variant C/T snv 4.4E-05 7.0E-06
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