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: rs10133673
rs10133673 		0.925 0.120 14 37068147 intron variant T/C snv 2.8E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10133673
rs10133673 		0.925 0.120 14 37068147 intron variant T/C snv 2.8E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2144319
rs2144319 		14 37089029 intron variant G/A snv 4.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2144319
rs2144319 		14 37089029 intron variant G/A snv 4.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35215132
rs35215132 		14 37052312 intron variant T/C snv 0.49
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs8003014
rs8003014 		14 36683145 intron variant T/C snv 0.47
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs848087
rs848087 		1.000 0.080 14 36808438 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1389068504
rs1389068504 		1.000 0.040 14 36684834 missense variant T/C snv 4.0E-06
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1389068504
rs1389068504 		1.000 0.040 14 36684834 missense variant T/C snv 4.0E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs764622508
rs764622508 		14 36729522 synonymous variant T/C snv 8.2E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006