SLC34A1, solute carrier family 34 member 1, 6569

N. diseases: 73; N. variants: 51
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 ×
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: rs121918610
rs121918610 		1.000 0.200 5 177386019 missense variant GC/TT mnv
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		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 1 2002 2002
dbSNP: rs121918611
rs121918611 		1.000 0.200 5 177386473 missense variant G/A;C snv 8.0E-06; 2.0E-05
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		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 1 2002 2002
dbSNP: rs1554095568
rs1554095568 		1.000 0.200 5 177388370 stop gained C/T snv
CUI: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		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