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: rs1290398674
rs1290398674 		0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1290398674
rs1290398674 		0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0406810
Disease: Carney Complex
Carney Complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1290398674
rs1290398674 		0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0346302
Disease: Growth Hormone-Secreting Pituitary Adenoma
Growth Hormone-Secreting Pituitary Adenoma 		Neoplasms; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1290398674
rs1290398674 		0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1290398674
rs1290398674 		0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1317816474
rs1317816474 		20 58909544 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1328937750
rs1328937750 		1.000 0.040 20 58853674 missense variant G/A snv
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1356899544
rs1356899544 		1.000 0.120 20 58854618 missense variant C/T snv 7.0E-06
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1369025856
rs1369025856 		0.925 0.080 20 58910061 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1369025856
rs1369025856 		0.925 0.080 20 58910061 missense variant G/A snv
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs137854532
rs137854532 		0.882 0.160 20 58905443 missense variant C/T snv
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs137854532
rs137854532 		0.882 0.160 20 58905443 missense variant C/T snv
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs137854532
rs137854532 		0.882 0.160 20 58905443 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs137854539
rs137854539 		0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1466641857
rs1466641857 		1.000 0.120 20 58853413 missense variant G/A snv 1.4E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs371055001
rs371055001 		0.882 0.160 20 58840698 missense variant G/A snv 8.9E-05 7.0E-05
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: rs371055001
rs371055001 		0.882 0.160 20 58840698 missense variant G/A snv 8.9E-05 7.0E-05
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs371055001
rs371055001 		0.882 0.160 20 58840698 missense variant G/A snv 8.9E-05 7.0E-05
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs375486178
rs375486178 		1.000 0.040 20 58853828 missense variant G/A snv 4.6E-06 1.4E-05
CUI: C1704356
Disease: Enchondroma
Enchondroma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs536976542
rs536976542 		20 58854270 missense variant G/A;T snv 8.2E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 1995 1995
dbSNP: rs6026584
rs6026584 		0.925 0.040 20 58894018 intron variant T/C snv 0.70
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6026584
rs6026584 		0.925 0.040 20 58894018 intron variant T/C snv 0.70
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6123837
rs6123837 		0.925 0.040 20 58890516 synonymous variant G/A snv 0.30
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6123837
rs6123837 		0.925 0.040 20 58890516 synonymous variant G/A snv 0.30
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7121
rs7121 		0.882 0.160 20 58903752 missense variant C/G;T snv 0.54
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016