ESRRG, estrogen related receptor gamma, 2104

N. diseases: 75; N. variants: 22
Disease: Cleft upper lip ×
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: rs1339221
rs1339221 		1.000 0.080 1 216999264 intron variant T/C snv 0.64
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2018 2018