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: rs886040995
rs886040995 		1.000 0.080 8 60852682 stop gained C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs587783446
rs587783446 		0.763 0.280 8 60850546 stop gained C/T snv
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		0.700 0
dbSNP: rs1554603293
rs1554603293 		0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
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: 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: 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: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C0332853
Disease: Anastomosis
Anastomosis 		0.010 1.000 1 2008 2008
dbSNP: rs886040983
rs886040983 		0.925 0.120 8 60822504 stop gained C/T snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1563595095
rs1563595095 		0.776 0.320 8 60781285 frameshift variant AA/T delins
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1563595095
rs1563595095 		0.776 0.320 8 60781285 frameshift variant AA/T delins
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1563595095
rs1563595095 		0.776 0.320 8 60781285 frameshift variant AA/T delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs367557471
rs367557471 		1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
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: rs4449834
rs4449834 		8 60843309 intron variant G/T snv 0.71
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: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
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: rs587783446
rs587783446 		0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs754858730
rs754858730 		1.000 0.040 8 60853189 missense variant C/T snv 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121434338
rs121434338 		0.925 0.080 8 60822627 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 19 2004 2015