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: rs281864468
rs281864468 		1.000 0.160 X 130131770 missense variant T/A snv
CUI: C0795910
Disease: COWCHOCK SYNDROME
COWCHOCK SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2012 2015
dbSNP: rs724160026
rs724160026 		0.925 0.160 X 130136729 missense variant C/G snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2015 2015
dbSNP: rs863225431
rs863225431 		0.925 0.160 X 130133409 missense variant C/T snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2015 2015
dbSNP: rs863225432
rs863225432 		1.000 0.160 X 130140536 missense variant T/C snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2015 2015
dbSNP: rs724160020
rs724160020 		1.000 0.160 X 130136086 missense variant G/A snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs724160021
rs724160021 		0.925 0.160 X 130136085 missense variant C/T snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs724160022
rs724160022 		0.925 0.160 X 130133337 missense variant G/A snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs724160023
rs724160023 		0.925 0.160 X 130131756 missense variant C/T snv 5.5E-06
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs1223488720
rs1223488720 		1.000 0.160 X 130136062 missense variant G/A snv 9.5E-06
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (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: rs184474885
rs184474885 		0.925 0.160 X 130137123 missense variant G/A snv 1.9E-04 3.8E-05
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (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: rs1057516211
rs1057516211 		1.000 X 130133325 missense variant T/C snv
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 0
dbSNP: rs1057518895
rs1057518895 		1.000 0.120 X 130137134 start lost A/G snv
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		0.700 0
dbSNP: rs1057518895
rs1057518895 		1.000 0.120 X 130137134 start lost A/G snv
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518895
rs1057518895 		1.000 0.120 X 130137134 start lost A/G snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057518895
rs1057518895 		1.000 0.120 X 130137134 start lost A/G snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906500
rs387906500 		1.000 X 130147493 inframe deletion TCT/- delins
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 0
dbSNP: rs724160014
rs724160014 		1.000 0.160 X 130165779 5 prime UTR variant C/A;G snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160015
rs724160015 		0.925 0.160 X 130147792 missense variant G/A snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160015
rs724160015 		0.925 0.160 X 130147792 missense variant G/A snv
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160016
rs724160016 		0.925 0.160 X 130147525 missense variant CA/AG mnv
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160016
rs724160016 		0.925 0.160 X 130147525 missense variant CA/AG mnv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160017
rs724160017 		0.925 0.160 X 130139808 missense variant G/A snv 2.2E-05 9.5E-06
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160017
rs724160017 		0.925 0.160 X 130139808 missense variant G/A snv 2.2E-05 9.5E-06
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160018
rs724160018 		0.925 0.160 X 130138700 missense variant A/G snv
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs724160018
rs724160018 		0.925 0.160 X 130138700 missense variant A/G snv
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0