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: rs10934753
rs10934753 		3 126187336 intron variant G/A snv 0.36
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.700 1.000 1 2014 2014
dbSNP: rs10934754
rs10934754 		3 126187394 intron variant T/C snv 0.36
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs16837171
rs16837171 		0.925 0.040 3 126152930 non coding transcript exon variant C/G;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16837171
rs16837171 		0.925 0.040 3 126152930 non coding transcript exon variant C/G;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2003334
rs2003334 		1.000 0.080 3 126103160 upstream gene variant C/T snv 0.36
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2276724
rs2276724 		1.000 0.080 3 126135566 missense variant T/C snv 0.14 0.15
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2364368
rs2364368 		1.000 0.080 3 126186237 intron variant A/T snv 0.35
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4646705
rs4646705 		3 126156988 intron variant G/A snv 0.52
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4679103
rs4679103 		3 126190682 intron variant G/T snv 0.32
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs750714
rs750714 		3 126185845 intron variant G/A snv 0.37
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs9862438
rs9862438 		3 126191538 intron variant C/T snv 0.36
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs768309358
rs768309358 		1.000 0.080 3 126131475 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1127717
rs1127717 		0.925 0.160 3 126107216 missense variant T/C snv 0.18 0.20
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1127717
rs1127717 		0.925 0.160 3 126107216 missense variant T/C snv 0.18 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1127717
rs1127717 		0.925 0.160 3 126107216 missense variant T/C snv 0.18 0.20
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs150865017
rs150865017 		1.000 0.120 3 126154627 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2276724
rs2276724 		1.000 0.080 3 126135566 missense variant T/C snv 0.14 0.15
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2276731
rs2276731 		3 126155545 non coding transcript exon variant C/T snv 0.83 0.83
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2305225
rs2305225 		3 126131662 intron variant G/A snv 0.64
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2364368
rs2364368 		1.000 0.080 3 126186237 intron variant A/T snv 0.35
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4646733
rs4646733 		3 126131258 intron variant C/T snv 0.64
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016