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.
Acth-Independent Macronodular Adrenal Hyperplasia
8 0.672 0.400 20 58909366 missense variant G/A;T snv 0.800 1.000 1 2003 2003
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 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
138 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
46 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Anaplasia
CUI: C0002793
Disease: Anaplasia
7 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2014 2014
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
80 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2013 2013
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2016 2016
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2014 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Cryptogenic sexual precocity
CUI: C0271527
Disease: Cryptogenic sexual precocity
2 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2006 2006
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Fibrous Dysplasia
CUI: C0259779
Disease: Fibrous Dysplasia
5 0.672 0.400 20 58909366 missense variant G/A;T snv 0.050 1.000 5 2012 2014
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Intraductal papillary mucinous neoplasm
2 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
32 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2019 2019
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2014 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
10 0.672 0.400 20 58909366 missense variant G/A;T snv 0.850 1.000 11 1991 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.672 0.400 20 58909366 missense variant G/A;T snv 0.730 0.800 5 2010 2014
Pancreatic Intraductal Papillary Mucinous Neoplasm
8 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2013 2013
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
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