SLC34A1, solute carrier family 34 member 1, 6569

N. diseases: 73; N. variants: 51
Disease: Hypercalcemia, infantile, 2 ×
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: rs769409705
rs769409705 		1.000 0.040 5 177386492 missense variant G/C;T snv 4.0E-06; 2.0E-05; 1.6E-05
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.800 1.000 1 2016 2016
dbSNP: rs876661338
rs876661338 		1.000 0.040 5 177393763 missense variant T/G snv
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.800 1.000 1 2016 2016
dbSNP: rs369770760
rs369770760 		1.000 0.040 5 177386498 missense variant T/C snv 1.6E-05 5.6E-05
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs577273266
rs577273266 		1.000 0.040 5 177387872 missense variant C/G;T snv 1.3E-04; 8.2E-05
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs140649226
rs140649226 		1.000 0.040 5 177396781 missense variant T/A snv 9.9E-05 1.1E-04
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs146919762
rs146919762 		1.000 0.040 5 177387833 missense variant G/A snv 9.2E-05 6.3E-05
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554095500
rs1554095500 		1.000 0.040 5 177388062 missense variant A/C snv
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200095793
rs200095793 		1.000 0.040 5 177393764 splice donor variant G/A;T snv 6.4E-05; 1.2E-05
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs201304511
rs201304511 		0.882 0.120 5 177387874 splice donor variant G/A snv 7.8E-05 4.2E-05
CUI: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		Nutritional and Metabolic Diseases 0.700 0