rs121913495, GNAS

N. diseases: 15
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 0.672 0.400 20 58909366 missense variant G/A;T snv 0.850 1.000 2 1991 2018
Acth-Independent Macronodular Adrenal Hyperplasia
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
4 0.672 0.400 20 58909366 missense variant G/A;T snv 0.800 1.000 0 2003 2003
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.672 0.400 20 58909366 missense variant G/A;T snv 0.730 0.800 2 2010 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
114 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
34 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
153 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
188 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
179 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
69 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
PITUITARY ADENOMA 3, MULTIPLE TYPES
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
6 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 0
Sex Cord-Stromal Tumor
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
2 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 0