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: rs7537052
rs7537052 		1.000 0.040 1 36151340 intron variant T/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs751375244
rs751375244 		0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs751375244
rs751375244 		0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs751375244
rs751375244 		0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs751375244
rs751375244 		0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs751375244
rs751375244 		0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs751375244
rs751375244 		0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0