GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Disproportionate short stature ×
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: rs1272546759
rs1272546759 		0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0