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: 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: 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: rs1570669
rs1570669 		0.925 0.080 20 54157888 intron variant A/G snv 0.42
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.800 1.000 1 2013 2013
dbSNP: rs6068812
rs6068812 		1.000 0.040 20 54158096 missense variant A/G snv 7.5E-04 8.2E-04
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs387907322
rs387907322 		1.000 0.040 20 54171644 missense variant C/G;T snv 1.6E-05; 2.8E-05
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs387907324
rs387907324 		1.000 0.040 20 54162743 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs777676129
rs777676129 		1.000 0.040 20 54172928 inframe deletion CTT/- delins 5.2E-04
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.700 1.000 14 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: 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: rs774432244
rs774432244 		1.000 0.040 20 54173518 frameshift variant G/- delins 4.2E-05
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1570669
rs1570669 		0.925 0.080 20 54157888 intron variant A/G snv 0.42
CUI: C0428302
Disease: Calcium level result
Calcium level result 		0.700 1.000 1 2013 2013
dbSNP: rs2762932
rs2762932 		0.882 0.200 20 54151852 downstream gene variant T/C snv 0.17
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2762943
rs2762943 		20 54174247 upstream gene variant T/G snv 0.94
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs114368325
rs114368325 		0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06
CUI: C0037763
Disease: Spasm
Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387907323
rs387907323 		1.000 0.040 20 54171669 stop gained C/A snv
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs777947329
rs777947329 		1.000 0.040 20 54159075 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs876657376
rs876657376 		1.000 0.040 20 54157395 frameshift variant AG/- delins 4.0E-06
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		Nutritional and Metabolic Diseases 0.700 0
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: 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