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: rs66468541
rs66468541 		0.925 0.080 2 197497275 missense variant C/T snv
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 1 2008 2008
dbSNP: rs72466451
rs72466451 		0.925 0.160 2 197498763 missense variant T/C snv
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 0
dbSNP: rs17730989
rs17730989 		2 197497800 intron variant C/T snv 0.42
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs788016
rs788016 		2 197487569 intron variant G/A snv 0.42
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs863224878
rs863224878 		1.000 0.080 2 197487161 missense variant G/A snv
CUI: C1854467
Disease: Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 13, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs66468541
rs66468541 		0.925 0.080 2 197497275 missense variant C/T snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2008 2019
dbSNP: rs2340690
rs2340690 		1.000 0.120 2 197496162 intron variant A/G snv 0.16
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2605039
rs2605039 		0.882 0.120 2 197498127 intron variant C/A snv 0.71
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2605039
rs2605039 		0.882 0.120 2 197498127 intron variant C/A snv 0.71
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2605039
rs2605039 		0.882 0.120 2 197498127 intron variant C/A snv 0.71
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2605039
rs2605039 		0.882 0.120 2 197498127 intron variant C/A snv 0.71
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs370664935
rs370664935 		1.000 2 197498824 missense variant G/C snv 7.0E-06
CUI: C0745287
Disease: infertility tubal factor
infertility tubal factor 		0.010 1.000 1 2009 2009
dbSNP: rs66468541
rs66468541 		0.925 0.080 2 197497275 missense variant C/T snv
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs66468541
rs66468541 		0.925 0.080 2 197497275 missense variant C/T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs72466451
rs72466451 		0.925 0.160 2 197498763 missense variant T/C snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013