STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12
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: rs756606635
rs756606635 		1.000 0.120 15 43603244 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2001 2016
dbSNP: rs774312182
rs774312182 		1.000 0.120 15 43604720 stop gained G/A snv 6.0E-05 1.1E-04
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2010 2014
dbSNP: rs144948296
rs144948296 		0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04
CUI: C0042571
Disease: Vertigo
Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs144948296
rs144948296 		0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs144948296
rs144948296 		0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04
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: rs199839039
rs199839039 		1.000 0.120 15 43601395 splice donor variant C/T snv 4.0E-05 1.4E-05
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs376104748
rs376104748 		1.000 0.120 15 43604408 missense variant G/A;C snv 2.1E-05; 1.3E-04
CUI: C1858916
Disease: DEAFNESS, AUTOSOMAL DOMINANT 16
DEAFNESS, AUTOSOMAL DOMINANT 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs576724182
rs576724182 		1.000 0.120 15 43610350 stop gained G/A snv 4.0E-04
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727503443
rs727503443 		1.000 0.120 15 43603362 missense variant C/G snv 2.0E-05 1.4E-05
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs748854592
rs748854592 		0.882 0.160 15 43604153 splice acceptor variant C/T snv 5.1E-05 6.3E-05
CUI: C2751811
Disease: Spermatogenic Failure 7
Spermatogenic Failure 7 		Male Urogenital Diseases 0.700 0
dbSNP: rs748854592
rs748854592 		0.882 0.160 15 43604153 splice acceptor variant C/T snv 5.1E-05 6.3E-05
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs748854592
rs748854592 		0.882 0.160 15 43604153 splice acceptor variant C/T snv 5.1E-05 6.3E-05
CUI: C1970187
Disease: Deafness, Sensorineural, And Male Infertility
Deafness, Sensorineural, And Male Infertility 		Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs763904943
rs763904943 		1.000 0.120 15 43601533 stop gained C/A;T snv 1.2E-05
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs763904943
rs763904943 		1.000 0.120 15 43601533 stop gained C/A;T snv 1.2E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs778909195
rs778909195 		1.000 0.120 15 43604020 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786200882
rs786200882 		1.000 0.120 15 43611297 frameshift variant -/G delins
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786200883
rs786200883 		1.000 0.120 15 43614436 frameshift variant AACA/- delins 2.0E-05 1.0E-04
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0