MC2R, melanocortin 2 receptor, 4158

N. diseases: 109; N. variants: 24
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: rs758709668
rs758709668 		0.925 0.200 18 13885082 missense variant C/A;T snv 4.0E-06; 3.2E-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