rs121913495, GNAS

N. diseases: 28
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Polyostotic fibrous dysplasia
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
2 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2017 2017
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2006 2006
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2019 2019