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: rs114368325
rs114368325 		0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.800 1.000 8 2011 2015
dbSNP: rs2248359
rs2248359 		0.790 0.400 20 54174979 upstream gene variant C/T snv 0.47
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.820 1.000 4 2011 2016
dbSNP: rs139763321
rs139763321 		1.000 0.040 20 54172915 missense variant A/G snv 1.6E-04 1.3E-04
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.700 1.000 3 2013 2016
dbSNP: rs2585428
rs2585428 		0.763 0.200 20 54170358 intron variant C/T snv 0.46
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2018 2020
dbSNP: rs2585428
rs2585428 		0.763 0.200 20 54170358 intron variant C/T snv 0.46
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2018 2020
dbSNP: rs4809960
rs4809960 		0.807 0.240 20 54169534 intron variant T/C snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2018 2020
dbSNP: rs4809960
rs4809960 		0.807 0.240 20 54169534 intron variant T/C snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2018 2020
dbSNP: rs114368325
rs114368325 		0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06
CUI: C0006705
Disease: Calcium Metabolism Disorders
Calcium Metabolism Disorders 		Nutritional and Metabolic Diseases 0.700 1.000 2 2011 2011
dbSNP: rs114368325
rs114368325 		0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2011 2011
dbSNP: rs2585428
rs2585428 		0.763 0.200 20 54170358 intron variant C/T snv 0.46
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2020 2020
dbSNP: rs4809960
rs4809960 		0.807 0.240 20 54169534 intron variant T/C snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2018 2020
dbSNP: rs4809960
rs4809960 		0.807 0.240 20 54169534 intron variant T/C snv 0.20
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2020 2020
dbSNP: rs4809960
rs4809960 		0.807 0.240 20 54169534 intron variant T/C snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2018 2020
dbSNP: rs6022999
rs6022999 		0.790 0.160 20 54171474 intron variant A/G snv 0.36
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2014
dbSNP: rs6022999
rs6022999 		0.790 0.160 20 54171474 intron variant A/G snv 0.36
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2014
dbSNP: rs6068816
rs6068816 		0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2019 2019
dbSNP: rs6068816
rs6068816 		0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2019 2019
dbSNP: rs6068816
rs6068816 		0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2019 2019
dbSNP: rs6068816
rs6068816 		0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2015 2016
dbSNP: rs927650
rs927650 		0.763 0.240 20 54156202 intron variant T/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2020
dbSNP: rs927650
rs927650 		0.763 0.240 20 54156202 intron variant T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2020
dbSNP: rs116548533
rs116548533 		0.851 0.280 20 54159083 missense variant C/A;T snv 4.0E-06; 4.2E-04
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs116548533
rs116548533 		0.851 0.280 20 54159083 missense variant C/A;T snv 4.0E-06; 4.2E-04
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs116548533
rs116548533 		0.851 0.280 20 54159083 missense variant C/A;T snv 4.0E-06; 4.2E-04
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs116548533
rs116548533 		0.851 0.280 20 54159083 missense variant C/A;T snv 4.0E-06; 4.2E-04
CUI: C2363065
Disease: Vitamin D-resistant rickets
Vitamin D-resistant rickets 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2017 2017