Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139622189
rs139622189
SLC9A3R1 ; MIR3615 ; LOC105371893
CUI: C2676782
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 		0.700 GeneticVariation UNIPROT A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism. 22506049

2012
dbSNP: rs139622189
rs139622189
SLC9A3R1 ; MIR3615 ; LOC105371893
CUI: C2676782
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 		0.700 GeneticVariation UNIPROT NHERF1 mutations and responsiveness of renal parathyroid hormone. 18784102

2008