Disease: DEAFNESS, X-LINKED 1 (disorder) ×
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: rs587781261
rs587781261 		0.925 0.160 X 107640932 missense variant G/T snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587781262
rs587781262 		0.882 0.240 X 107640938 missense variant A/G snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs180177151
rs180177151 		1.000 0.160 X 107639365 missense variant G/A snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs180177152
rs180177152 		1.000 0.160 X 107639431 missense variant G/A snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs180177153
rs180177153 		1.000 0.160 X 107649944 missense variant T/C snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs180177154
rs180177154 		1.000 0.160 X 107649991 missense variant G/A snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs869025593
rs869025593 		0.925 0.200 X 107647731 missense variant A/C snv
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
DEAFNESS, X-LINKED 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0