GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
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: rs121913495
rs121913495
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia
Musculoskeletal Diseases 0.010 1.000 1 2017 2017