GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Acromegaly ×
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: rs1290398674
rs1290398674 		0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014