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: 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
dbSNP: rs121918026
rs121918026 		1.000 0.040 6 131864886 missense variant A/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
dbSNP: rs373044722
rs373044722 		0.925 0.200 6 131872926 missense variant C/T snv 8.0E-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: rs387906673
rs387906673 		1.000 0.040 6 131874314 missense variant G/C 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
dbSNP: rs121908248
rs121908248 		0.925 0.200 6 131860388 missense variant G/C;T snv
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 0.800 1.000 3 2010 2015
dbSNP: rs121908249
rs121908249 		1.000 0.200 6 131890435 missense variant A/C;G snv 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 0.800 1.000 3 2010 2015
dbSNP: rs397518475
rs397518475 		1.000 6 131851241 missense variant G/A snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs397518476
rs397518476 		1.000 6 131851202 missense variant G/C snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs397518477
rs397518477 		1.000 6 131851157 missense variant G/C snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs140248167
rs140248167 		1.000 0.040 6 131875849 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs147346173
rs147346173 		1.000 0.040 6 131884949 missense variant A/G snv 1.2E-04 2.7E-04
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs148462924
rs148462924 		1.000 0.040 6 131872076 missense variant A/C;G snv 4.0E-06; 8.8E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs370184526
rs370184526 		0.925 0.200 6 131884994 missense variant A/G snv 7.6E-05 6.3E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs754659608
rs754659608 		1.000 0.040 6 131858701 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs760786509
rs760786509 		1.000 0.040 6 131854955 missense variant C/A snv 2.0E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs763457176
rs763457176 		1.000 0.040 6 131852201 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs764735802
rs764735802 		1.000 0.040 6 131864526 missense variant G/A snv 8.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs765071179
rs765071179 		1.000 0.040 6 131869451 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs777367269
rs777367269 		1.000 0.040 6 131877024 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs370184526
rs370184526 		0.925 0.200 6 131884994 missense variant A/G snv 7.6E-05 6.3E-05
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 1.000 3 2010 2015
dbSNP: rs374270497
rs374270497 		0.925 0.040 6 131860504 missense variant C/A;T snv 2.0E-05
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		Nutritional and Metabolic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs62424521
rs62424521 		6 131878279 intron variant C/T snv 2.0E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
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