POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Aarskog syndrome ×
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: rs45463492
rs45463492 		1.000 0.160 2 25161451 missense variant C/A;T snv 3.0E-05; 3.0E-05
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.020 1.000 2 1998 2006
dbSNP: rs1265342534
rs1265342534 		1.000 0.160 2 25161191 missense variant G/C snv 4.0E-06
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs768299768
rs768299768 		0.925 0.200 2 25161505 missense variant C/A;T snv 9.2E-06
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs775159616
rs775159616 		1.000 0.160 2 25161311 missense variant C/T snv 4.3E-06; 3.0E-05 7.0E-06
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002