MTNR1B, melatonin receptor 1B, 4544

N. diseases: 80; N. variants: 7
Disease: Androgen-Insensitivity Syndrome ×
Source: BEFREE ×
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: rs4753426
rs4753426 		0.827 0.280 11 92968430 upstream gene variant T/C snv 0.49
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.030 0.333 3 2007 2016
dbSNP: rs10830963
rs10830963 		0.776 0.400 11 92975544 intron variant C/G snv 0.22
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2015 2015