ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Idiopathic scoliosis ×
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: rs2234693
rs2234693 		0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 < 0.001 1 2013 2013