SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Yemenite deaf-blind hypopigmentation 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: rs74315514
rs74315514 		0.925 0.280 22 37977999 stop gained C/A snv
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs74315515
rs74315515 		0.925 0.240 22 37983381 missense variant C/G;T snv
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs74315520
rs74315520 		0.925 0.280 22 37973767 stop gained G/A snv
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2006 2006