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: 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
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: rs745455593
rs745455593 		0.925 0.080 7 128400412 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C1867300
Disease: RETINITIS PIGMENTOSA 9
RETINITIS PIGMENTOSA 9 		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: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		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: 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: rs759995866
rs759995866 		0.851 0.120 7 128398478 missense variant G/A snv 4.0E-06
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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: rs1057518949
rs1057518949 		1.000 0.080 7 128398560 missense variant T/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121912551
rs121912551 		1.000 0.080 7 128398431 missense variant C/T snv 4.8E-05 6.3E-05
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121912552
rs121912552 		0.882 0.080 7 128398562 missense variant C/G snv
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs886037911
rs886037911 		1.000 0.080 7 128398504 missense variant C/G snv
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0