SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23 ×
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: rs104894478
rs104894478 		0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2004 2009
dbSNP: rs1060499595
rs1060499595 		0.925 0.160 14 60648730 stop gained T/A snv
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs797044960
rs797044960 		0.925 0.200 14 60648817 missense variant C/T snv
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80356460
rs80356460 		1.000 0.120 14 60648791 inframe deletion CCT/- delins
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0