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: rs10786691
rs10786691 		0.925 0.160 10 102604895 intron variant G/A;T snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10786691
rs10786691 		0.925 0.160 10 102604895 intron variant G/A;T snv
CUI: C4551722
Disease: Encephalocele
Encephalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10786691
rs10786691 		0.925 0.160 10 102604895 intron variant G/A;T snv
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17114803
rs17114803 		1.000 0.040 10 102627177 splice region variant T/C snv 0.16 0.15
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17114808
rs17114808 		0.925 0.040 10 102631528 3 prime UTR variant C/A;G;T snv
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17114808
rs17114808 		0.925 0.040 10 102631528 3 prime UTR variant C/A;G;T snv
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2001389
rs2001389 		0.925 0.120 10 102615501 intron variant G/A;C snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2001389
rs2001389 		0.925 0.120 10 102615501 intron variant G/A;C snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2001389
rs2001389 		0.925 0.120 10 102615501 intron variant G/A;C snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs202247756
rs202247756 		1.000 0.080 10 102550019 missense variant C/T snv
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs587776578
rs587776578 		0.882 0.160 10 102599545 splice donor variant G/A;C snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 3 2011 2014
dbSNP: rs587776578
rs587776578 		0.882 0.160 10 102599545 splice donor variant G/A;C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 2011 2014
dbSNP: rs1554841447
rs1554841447 		0.925 0.160 10 102509168 splice acceptor variant G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 2 2012 2014
dbSNP: rs1554841447
rs1554841447 		0.925 0.160 10 102509168 splice acceptor variant G/A snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs1564676479
rs1564676479 		0.925 0.160 10 102550107 splice donor variant G/A snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs1564676479
rs1564676479 		0.925 0.160 10 102550107 splice donor variant G/A snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 2 2012 2014
dbSNP: rs111604275
rs111604275 		10 102506502 intron variant C/T snv 3.7E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs113422568
rs113422568 		10 102578181 intron variant G/A snv 0.25
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs113422568
rs113422568 		10 102578181 intron variant G/A snv 0.25
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs12572775
rs12572775 		10 102525837 intron variant A/T snv 0.47
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1554852279
rs1554852279 		0.925 0.160 10 102592711 frameshift variant -/TA delins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs1554852279
rs1554852279 		0.925 0.160 10 102592711 frameshift variant -/TA delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17114641
rs17114641 		10 102527602 intron variant T/G snv 9.4E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs201333164
rs201333164 		10 102518505 intron variant GTCT/-;GTCTGTCT;GTCTGTCTGTCT delins 6.7E-04
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2274351
rs2274351 		10 102504350 intron variant C/G;T snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015