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: rs752171066
rs752171066 		0.882 0.080 17 8174573 inframe deletion AAG/- delins 2.0E-05 2.1E-05
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2014 2016
dbSNP: rs8069739
rs8069739 		17 8175447 3 prime UTR variant T/A;C snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1555525654
rs1555525654 		1.000 0.160 17 8173566 3 prime UTR variant -/GGATTATCCCACCTGACGATACAGACAAA delins
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201787275
rs201787275 		1.000 0.160 17 8173444 3 prime UTR variant G/A;C;T snv 2.0E-03; 4.3E-06; 8.6E-06; 4.3E-06
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs752171066
rs752171066 		0.882 0.080 17 8174573 inframe deletion AAG/- delins 2.0E-05 2.1E-05
CUI: C4539729
Disease: OROFACIODIGITAL SYNDROME XVI
OROFACIODIGITAL SYNDROME XVI 		0.700 0
dbSNP: rs752171066
rs752171066 		0.882 0.080 17 8174573 inframe deletion AAG/- delins 2.0E-05 2.1E-05
CUI: C4539715
Disease: JOUBERT SYNDROME 29
JOUBERT SYNDROME 29 		0.700 0
dbSNP: rs755495846
rs755495846 		1.000 0.160 17 8173531 3 prime UTR variant T/A;C;G snv 1.7E-05; 1.7E-05; 1.3E-05
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886039783
rs886039783 		1.000 0.160 17 8173637 3 prime UTR variant AAGCTA/- del
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886039784
rs886039784 		1.000 0.160 17 8173532 3 prime UTR variant C/T snv 4.2E-05
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0