SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: Congenital deafness ×
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: rs759552778
rs759552778 		1.000 0.200 X 21743827 missense variant T/C snv 1.8E-04 5.7E-05
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017