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
dbSNP: rs28940892
rs28940892 		0.882 0.200 18 13884758 missense variant T/C snv
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 2012 2012
dbSNP: rs768093045
rs768093045 		0.925 0.200 18 13885212 missense variant C/G;T snv 1.6E-05
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: rs775777341
rs775777341 		1.000 0.160 18 13884822 missense variant C/G;T snv 4.0E-06; 8.0E-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