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: rs529924080
rs529924080 		7 142876777 missense variant A/C;G snv 1.4E-04
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		Pathological Conditions, Signs and Symptoms; Endocrine System Diseases 0.700 1.000 2 2018 2019
dbSNP: rs1281361203
rs1281361203 		7 142875133 missense variant C/T snv 1.4E-05
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		Pathological Conditions, Signs and Symptoms; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4987668
rs4987668 		7 142874896 splice region variant A/G snv 9.0E-02 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs759393722
rs759393722 		7 142874958 missense variant C/T snv 1.6E-05
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		Pathological Conditions, Signs and Symptoms; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1200458339
rs1200458339 		7 142877137 splice region variant C/T snv
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		Pathological Conditions, Signs and Symptoms; Endocrine System Diseases 0.700 0
dbSNP: rs1342435095
rs1342435095 		7 142875808 frameshift variant CT/- del 7.0E-06
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		Pathological Conditions, Signs and Symptoms; Endocrine System Diseases 0.700 0
dbSNP: rs766719790
rs766719790 		7 142877215 frameshift variant -/AGCA delins 4.0E-06; 4.0E-05 7.0E-06
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		Pathological Conditions, Signs and Symptoms; Endocrine System Diseases 0.700 0