Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs529924080
rs529924080
Entrez Id: 55503
Gene Symbol: TRPV6
TRPV6
CUI: C1300287
Disease:
Transient neonatal hyperparathyroidism
G 0.700 GeneticVariation CLINVAR TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism. 30820485 2019
dbSNP: rs529924080
rs529924080
Entrez Id: 55503
Gene Symbol: TRPV6
TRPV6
CUI: C1300287
Disease:
Transient neonatal hyperparathyroidism
G 0.700 GeneticVariation CLINVAR TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. 29861107 2018
dbSNP: rs529924080
rs529924080
Entrez Id: 55503
Gene Symbol: TRPV6
TRPV6
CUI: C1300287
Disease:
Transient neonatal hyperparathyroidism
G 0.700 CausalMutation CLINVAR