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: rs2278293
rs2278293 		0.882 0.040 7 128400698 non coding transcript exon variant C/T snv 0.47
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2278294
rs2278294 		0.882 0.080 7 128400645 non coding transcript exon variant C/T snv 0.38
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs121912554
rs121912554 		0.925 0.040 7 128400120 missense variant A/C;G snv 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121912550
rs121912550 		0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2005 2006
dbSNP: rs1042253
rs1042253 		0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1186710140
rs1186710140 		1.000 0.080 7 128398499 missense variant A/G snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121912552
rs121912552 		0.882 0.080 7 128398562 missense variant C/G snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1287231851
rs1287231851 		1.000 0.080 7 128400887 missense variant A/G snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1486286708
rs1486286708 		1.000 0.080 7 128398508 missense variant T/C snv 7.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200729507
rs200729507 		0.851 0.120 7 128396990 missense variant G/A;C;T snv 7.6E-05; 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs373276383
rs373276383 		1.000 0.080 7 128396940 missense variant C/A;G snv 1.2E-05; 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs745455593
rs745455593 		0.925 0.080 7 128400412 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs759995866
rs759995866 		0.851 0.120 7 128398478 missense variant G/A snv 4.0E-06
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs761020434
rs761020434 		1.000 0.080 7 128398475 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2278293
rs2278293 		0.882 0.040 7 128400698 non coding transcript exon variant C/T snv 0.47
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1042253
rs1042253 		0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121912550
rs121912550 		0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs200729507
rs200729507 		0.851 0.120 7 128396990 missense variant G/A;C;T snv 7.6E-05; 4.0E-06
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs759995866
rs759995866 		0.851 0.120 7 128398478 missense variant G/A snv 4.0E-06
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2278293
rs2278293 		0.882 0.040 7 128400698 non coding transcript exon variant C/T snv 0.47
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1051367143
rs1051367143 		1.000 0.040 7 128400124 missense variant G/C snv 7.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121912554
rs121912554 		0.925 0.040 7 128400120 missense variant A/C;G snv 4.0E-06
CUI: C1840284
Disease: LEBER CONGENITAL AMAUROSIS 11
LEBER CONGENITAL AMAUROSIS 11 		Eye Diseases 0.700 0
dbSNP: rs2228075
rs2228075 		1.000 0.040 7 128394575 synonymous variant C/A;G;T snv 0.27
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2278294
rs2278294 		0.882 0.080 7 128400645 non coding transcript exon variant C/T snv 0.38
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2278294
rs2278294 		0.882 0.080 7 128400645 non coding transcript exon variant C/T snv 0.38
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015