rs121913494, GNAS

N. diseases: 3
Source: CLINVAR ×
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.
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
8 0.827 0.240 20 58909541 missense variant A/G;T snv 0.700 1.000 1 2007 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.827 0.240 20 58909541 missense variant A/G;T snv 0.700 1.000 1 2014 2014
PITUITARY ADENOMA 3, MULTIPLE TYPES
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
6 0.827 0.240 20 58909541 missense variant A/G;T snv 0.700 0