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: rs10511323
rs10511323 		3 113239477 intron variant A/G snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12631733
rs12631733 		3 113272270 non coding transcript exon variant C/T snv 0.21
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3814399
rs3814399 		1.000 0.080 3 113272645 synonymous variant C/A;T snv 4.7E-04; 2.1E-02
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72942485
rs72942485 		0.776 0.080 3 113280713 intron variant G/A snv 2.7E-02 4.5E-02
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs73235136
rs73235136 		0.925 0.040 3 113232682 intron variant C/A;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs73235136
rs73235136 		0.925 0.040 3 113232682 intron variant C/A;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs73235147
rs73235147 		3 113255108 intron variant A/T snv 0.19
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs367589886
rs367589886 		1.000 0.080 3 113279940 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0