Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201408477
rs201408477
POMC
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.010 GeneticVariation BEFREE Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity. 24890885

2015
dbSNP: rs1237859972
rs1237859972
POMC
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.010 GeneticVariation BEFREE A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH. 27000987

2016
dbSNP: rs1449052677
rs1449052677
POMC
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 GeneticVariation BEFREE A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland. 12386824

2002
dbSNP: rs1208512558
rs1208512558
POMC
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 GeneticVariation BEFREE A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland. 12386824

2002
dbSNP: rs768299768
rs768299768
POMC
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476

2014
dbSNP: rs759506294
rs759506294
POMC
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476

2014
dbSNP: rs1449052677
rs1449052677
POMC
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		0.010 GeneticVariation BEFREE A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland. 12386824

2002
dbSNP: rs1208512558
rs1208512558
POMC
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		0.010 GeneticVariation BEFREE A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland. 12386824

2002
dbSNP: rs12473543
rs12473543
POMC
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 GeneticVariation BEFREE Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS. 23375202

2013
dbSNP: rs768768839
rs768768839
POMC
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		0.010 GeneticVariation BEFREE By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. 15126570

2004
dbSNP: rs796065035
rs796065035
POMC
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		GCC 0.700 CausalMutation CLINVAR

dbSNP: rs796065034
rs796065034
POMC
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		C 0.700 CausalMutation CLINVAR

dbSNP: rs753856820
rs753856820
POMC
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553400259
rs1553400259
POMC
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121918112
rs121918112
POMC
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918111
rs121918111
POMC
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs752077839
rs752077839
POMC
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		0.010 GeneticVariation BEFREE The R151C, R160W and D294H alleles, designated 'R', are strongly associated with the RHC phenotype and have been proposed to result in loss of function receptors due to impaired G-protein coupling. 15972726

2005
dbSNP: rs10654394
rs10654394
POMC
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		0.010 GeneticVariation BEFREE The common variant, rs10654394, was not associated with BMI and neither common variant was associated with SD in either population. 23028917

2012