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: rs10437653
rs10437653 		11 46276080 upstream gene variant A/C snv 0.57
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs111942477
rs111942477 		11 46306017 intron variant G/A snv 0.26
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs12280680
rs12280680 		11 46279171 intron variant G/A;C snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs140887381
rs140887381 		11 46294028 intron variant T/C snv 1.0E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4625425
rs4625425 		1.000 0.040 11 46311342 intron variant T/G snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6485674
rs6485674 		1.000 0.040 11 46303284 intron variant C/G snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs73461870
rs73461870 		11 46279704 intron variant A/G snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7476
rs7476 		11 46321284 3 prime UTR variant A/C snv 0.46
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7924718
rs7924718 		1.000 0.040 11 46309432 intron variant T/G snv 0.22
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7927724
rs7927724 		1.000 0.040 11 46301658 intron variant G/A snv 0.32
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs7927724
rs7927724 		1.000 0.040 11 46301658 intron variant G/A snv 0.32
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1555222973
rs1555222973 		0.851 0.160 11 46312636 inframe deletion AAG/- delins
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555222973
rs1555222973 		0.851 0.160 11 46312636 inframe deletion AAG/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555222973
rs1555222973 		0.851 0.160 11 46312636 inframe deletion AAG/- delins
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		0.700 0
dbSNP: rs1555222973
rs1555222973 		0.851 0.160 11 46312636 inframe deletion AAG/- delins
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		0.700 0
dbSNP: rs1555222973
rs1555222973 		0.851 0.160 11 46312636 inframe deletion AAG/- delins
CUI: C4015610
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVI
OSTEOGENESIS IMPERFECTA, TYPE XVI 		0.700 0
dbSNP: rs1555222973
rs1555222973 		0.851 0.160 11 46312636 inframe deletion AAG/- delins
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs779809838
rs779809838 		1.000 11 46320289 stop gained C/A;T snv 4.1E-06 2.1E-05
CUI: C4015610
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVI
OSTEOGENESIS IMPERFECTA, TYPE XVI 		0.700 0