GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Disease: Autosomal dominant hypocalcemia ×
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: rs140749796
rs140749796 		0.925 0.080 19 3121122 missense variant C/G;T snv 8.0E-06
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: rs587777020
rs587777020 		0.925 0.080 19 3115009 missense variant G/A snv
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