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: rs10864728
rs10864728 		1 230169168 intron variant A/G snv 0.50
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1321257
rs1321257 		1 230169566 intron variant G/A snv 0.50
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17315646
rs17315646 		1 230159560 intron variant C/A;G snv 0.45
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2281719
rs2281719 		1.000 0.040 1 230161913 intron variant C/T snv 0.45
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2296065
rs2296065 		1 230166030 intron variant G/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4846908
rs4846908 		1 230149309 intron variant G/A snv 0.43
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs609526
rs609526 		1 230173160 intron variant T/A snv 0.56
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs611229
rs611229 		1 230188321 intron variant T/G snv 0.47
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs611841
rs611841 		1 230173735 intron variant C/A;G snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2144300
rs2144300 		0.882 0.040 1 230159169 intron variant C/T snv 0.44
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11122316
rs11122316 		1.000 0.120 1 230101356 intron variant A/G snv 0.42
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1997947
rs1997947 		1.000 0.120 1 230148017 intron variant G/A snv 0.78
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2760537
rs2760537 		1.000 0.120 1 230190666 intron variant G/A snv 0.23
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4846913
rs4846913 		1.000 0.120 1 230158968 intron variant C/A;T snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11122316
rs11122316 		1.000 0.120 1 230101356 intron variant A/G snv 0.42
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1997947
rs1997947 		1.000 0.120 1 230148017 intron variant G/A snv 0.78
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2760537
rs2760537 		1.000 0.120 1 230190666 intron variant G/A snv 0.23
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4846913
rs4846913 		1.000 0.120 1 230158968 intron variant C/A;T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4846914
rs4846914 		0.925 0.080 1 230159944 intron variant G/A snv 0.45
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11122469
rs11122469 		1.000 0.040 1 230219502 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11122470
rs11122470 		1.000 0.040 1 230225217 intron variant G/A snv 7.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12033321
rs12033321 		1.000 0.040 1 230229895 intron variant A/G snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12565801
rs12565801 		1.000 0.040 1 230253712 intron variant A/G snv 6.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1471916
rs1471916 		1.000 0.040 1 230266793 intron variant G/T snv 0.81
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1923950
rs1923950 		1.000 0.040 1 230249224 synonymous variant G/A;T snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017