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: rs28940313
rs28940313 		1.000 0.040 14 67729209 splice donor variant A/G snv 7.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs104894476
rs104894476 		1.000 0.040 14 67729220 missense variant C/G snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs1239043055
rs1239043055 		0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 2 2005 2014
dbSNP: rs1239043055
rs1239043055 		0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236099
rs527236099 		1.000 0.080 14 67729308 frameshift variant G/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 5 2005 2015
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2004 2004
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2004 2004
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs1555393005
rs1555393005 		1.000 0.120 14 67751050 splice donor variant A/G snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555393181
rs1555393181 		1.000 0.120 14 67752343 splice donor variant C/T snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771393692
rs771393692 		1.000 0.120 14 67752458 frameshift variant G/- del 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869312914
rs869312914 		1.000 0.120 14 67752520 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs869312914
rs869312914 		1.000 0.120 14 67752520 stop gained G/A snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555393338
rs1555393338 		1.000 0.120 14 67753706 splice donor variant C/T snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1049504575
rs1049504575 		1.000 0.120 14 67754069 splice donor variant A/T snv 4.0E-06 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs370837940
rs370837940 		1.000 0.120 14 67754158 stop gained G/A;T snv 1.2E-04; 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555393393
rs1555393393 		1.000 0.120 14 67754213 splice acceptor variant C/T snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555394376
rs1555394376 		1.000 0.080 14 67762275 frameshift variant -/A delins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555394824
rs1555394824 		1.000 0.120 14 67766231 frameshift variant -/A delins
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200595749
rs200595749 		0.925 0.080 14 67766404 missense variant C/T snv 8.8E-05 9.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 2 2011 2011
dbSNP: rs200595749
rs200595749 		0.925 0.080 14 67766404 missense variant C/T snv 8.8E-05 9.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2011
dbSNP: rs868672014
rs868672014 		1.000 0.120 14 67767779 frameshift variant T/- del 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs878855013
rs878855013 		1.000 0.080 14 67769731 splice acceptor variant C/- del
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0