ACKR3, atypical chemokine receptor 3, 57007

N. diseases: 400; N. variants: 3
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: rs35095494
rs35095494 		1.000 0.160 2 236581153 missense variant G/A;T snv 4.0E-03
CUI: C1845202
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrogenic Syndrome of Inappropriate Antidiuresis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs771600279
rs771600279 		1.000 0.080 2 236581483 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs771600279
rs771600279 		1.000 0.080 2 236581483 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs935677460
rs935677460 		2 236581132 missense variant G/A;C snv 1.6E-05; 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011