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: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.850 1.000 11 1991 2018
dbSNP: rs137854532
rs137854532 		0.882 0.160 20 58905443 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 0.800 1.000 11 1993 2015
dbSNP: rs137854531
rs137854531 		1.000 0.120 20 58903569 missense variant T/C snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 10 1993 2005
dbSNP: rs137854534
rs137854534 		1.000 0.120 20 58909715 missense variant C/G snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 10 1993 2005
dbSNP: rs137854538
rs137854538 		1.000 0.120 20 58909553 missense variant G/A snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 10 1993 2005
dbSNP: rs137854539
rs137854539 		0.716 0.520 20 58903703 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 0.800 1.000 10 1993 2005
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		Endocrine System Diseases 0.800 1.000 1 2003 2003
dbSNP: rs397514456
rs397514456 		1.000 0.120 20 58910818 stop gained G/A;T snv
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs397514457
rs397514457 		1.000 0.120 20 58910807 missense variant T/G snv
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs6026584
rs6026584 		0.925 0.040 20 58894018 intron variant T/C snv 0.70
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.800 1.000 1 2012 2012
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		Endocrine System Diseases 0.800 0
dbSNP: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.730 0.800 5 2010 2014
dbSNP: rs137854535
rs137854535 		0.925 0.120 20 58909737 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 0.700 1.000 10 1993 2005
dbSNP: rs1555868362
rs1555868362 		1.000 20 58840368 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2017
dbSNP: rs1555891562
rs1555891562 		1.000 20 58909707 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2017
dbSNP: rs1555891562
rs1555891562 		1.000 20 58909707 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 10 1993 2017
dbSNP: rs1555891562
rs1555891562 		1.000 20 58909707 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1993 2017
dbSNP: rs797045046
rs797045046 		0.925 0.120 20 58891760 stop gained C/G;T snv 5.0E-06
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 4 2000 2016
dbSNP: rs797045046
rs797045046 		0.925 0.120 20 58891760 stop gained C/G;T snv 5.0E-06
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 4 2000 2016
dbSNP: rs6026578
rs6026578 		20 58888417 5 prime UTR variant C/G snv 0.60
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 3 2018 2019
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 1.000 2 2004 2013
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs1407040
rs1407040 		20 58897119 intron variant C/T snv 0.70
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs1569032751
rs1569032751 		1.000 0.040 20 58910787 inframe deletion CAT/- delins
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 1.000 2 1996 2001
dbSNP: rs587776829
rs587776829 		0.882 0.200 20 58909194 frameshift variant GACT/- delins
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2013 2015