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: rs13269361
rs13269361 		0.925 0.040 8 60694892 intron variant A/G snv 0.10
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs13269361
rs13269361 		0.925 0.040 8 60694892 intron variant A/G snv 0.10
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs4738817
rs4738817 		8 60708054 intron variant G/A snv 0.36
CUI: C0001925
Disease: Albuminuria
Albuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7845701
rs7845701 		8 60711732 intron variant T/A;C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs10957156
rs10957156 		8 60716842 intron variant G/A snv 0.77
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs35914442
rs35914442 		8 60724328 intron variant A/G snv 0.17
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs35914442
rs35914442 		8 60724328 intron variant A/G snv 0.17
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs900504
rs900504 		8 60739148 intron variant G/A snv 0.45
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs756851968
rs756851968 		1.000 0.080 8 60741555 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2004 2015
dbSNP: rs886039523
rs886039523 		1.000 0.080 8 60741583 stop gained C/T snv
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		Neoplasms; Infections 0.010 1.000 1 2012 2012
dbSNP: rs121434345
rs121434345 		1.000 8 60741596 missense variant A/G snv 8.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.800 1.000 3 2008 2014
dbSNP: rs587783431
rs587783431 		1.000 0.080 8 60741619 frameshift variant CAAA/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs767819417
rs767819417 		1.000 0.080 8 60741647 missense variant A/G snv 1.2E-05 2.1E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1563559321
rs1563559321 		1.000 0.080 8 60741714 frameshift variant T/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs779024959
rs779024959 		1.000 0.080 8 60741727 missense variant G/A;C snv 4.8E-05; 3.2E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs794727293
rs794727293 		1.000 0.080 8 60741901 stop gained C/T snv 4.1E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 6 2004 2012
dbSNP: rs1554581198
rs1554581198 		1.000 0.080 8 60741910 frameshift variant T/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886040978
rs886040978 		1.000 0.080 8 60741928 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs797045468
rs797045468 		1.000 0.080 8 60741956 frameshift variant -/G delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581277
rs1554581277 		1.000 0.080 8 60742036 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0