rs11554273, GNAS

N. diseases: 22
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
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
8 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.800 0
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
10 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2004 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2012 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 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
348 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
PITUITARY ADENOMA 3, MULTIPLE TYPES
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
6 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 0
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
CUI: C4540536
Disease: PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
1 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 0
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
CUI: C2675383
Disease: POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
1 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 0
Sex Cord-Stromal Tumor
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
3 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 0
Adrenal Cushing's syndrome
CUI: C0342443
Disease: Adrenal Cushing's syndrome
9 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Cushing Syndrome
CUI: C0010481
Disease: Cushing Syndrome
9 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Fibrous Dysplasia
CUI: C0259779
Disease: Fibrous Dysplasia
5 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
Mucinous Adenocarcinoma
CUI: C0007130
Disease: Mucinous Adenocarcinoma
10 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
Tumors of Adrenal Cortex
CUI: C0001618
Disease: Tumors of Adrenal Cortex
5 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2013 2013