GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1131691907
rs1131691907 		1.000 0.040 20 58840473 missense variant A/G snv
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.010 1.000 1 2013 2013
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1159063042
rs1159063042 		1.000 0.120 20 58854612 missense variant C/T snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1182055544
rs1182055544 		20 58853903 missense variant G/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1203182324
rs1203182324 		1.000 0.040 20 58854258 missense variant G/A snv
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs121913494
rs121913494 		0.827 0.240 20 58909541 missense variant A/G;T snv
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913494
rs121913494 		0.827 0.240 20 58909541 missense variant A/G;T snv
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913494
rs121913494 		0.827 0.240 20 58909541 missense variant A/G;T snv
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913494
rs121913494 		0.827 0.240 20 58909541 missense variant A/G;T snv
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.010 1.000 1 2007 2007
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
Intraductal papillary mucinous neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0002793
Disease: Anaplasia
Anaplasia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
Pancreatic Intraductal Papillary Mucinous Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		Endocrine System Diseases 0.010 1.000 1 2006 2006