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: rs1451050
rs1451050 		0.925 0.040 11 31380616 intron variant T/C snv 2.2E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1451050
rs1451050 		0.925 0.040 11 31380616 intron variant T/C snv 2.2E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs542340
rs542340 		1.000 0.040 11 31387891 intron variant A/G;T snv 5.5E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs6484504
rs6484504 		11 31403276 intron variant T/C snv 0.79
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs6484504
rs6484504 		11 31403276 intron variant T/C snv 0.79
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs6484504
rs6484504 		11 31403276 intron variant T/C snv 0.79
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs111299050
rs111299050 		1.000 0.080 11 31370815 missense variant A/G snv 4.3E-04 2.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0