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: rs121908248
rs121908248 		0.925 0.200 6 131860388 missense variant G/C;T snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918023
rs121918023 		1.000 0.040 6 131890410 stop gained G/T snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918025
rs121918025 		0.925 0.080 6 131861704 missense variant G/T snv
CUI: C1859728
Disease: Coronary Sclerosis, Medial, of Infancy
Coronary Sclerosis, Medial, of Infancy 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1231182870
rs1231182870 		1.000 0.040 6 131854961 missense variant A/T snv 7.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1243920034
rs1243920034 		0.925 0.040 6 131873023 missense variant A/G snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs143393727
rs143393727 		1.000 0.040 6 131879910 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs143771474
rs143771474 		1.000 0.040 6 131860417 missense variant G/A snv 1.2E-05 5.6E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554203715
rs1554203715 		1.000 0.040 6 131864551 frameshift variant CAGCTTCCTAA/- delins
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554278331
rs1554278331 		1.000 0.200 6 131850106 splice donor variant G/- delins
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1562523328
rs1562523328 		1.000 0.040 6 131861679 missense variant C/G snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs184483616
rs184483616 		1.000 0.040 6 131890395 missense variant C/G;T snv 2.8E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs190947144
rs190947144 		1.000 0.080 6 131860451 missense variant C/T snv 3.8E-04 3.1E-04
CUI: C1865343
Disease: OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 0
dbSNP: rs267606784
rs267606784 		1.000 0.040 6 131858735 stop gained C/G snv 4.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs373044722
rs373044722 		0.925 0.200 6 131872926 missense variant C/T snv 8.0E-06
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs587776797
rs587776797 		1.000 0.200 6 131883709 frameshift variant -/A delins
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs753851892
rs753851892 		1.000 0.040 6 131858748 splice donor variant G/A snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs763922486
rs763922486 		0.925 0.200 6 131849999 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs763922486
rs763922486 		0.925 0.200 6 131849999 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 0.800 10 2009 2019
dbSNP: rs374270497
rs374270497 		0.925 0.040 6 131860504 missense variant C/A;T snv 2.0E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.800 1.000 8 2003 2016
dbSNP: rs121918024
rs121918024 		1.000 0.040 6 131877005 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.800 1.000 7 2003 2016
dbSNP: rs121918025
rs121918025 		0.925 0.080 6 131861704 missense variant G/T snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.800 1.000 7 2003 2016