OTOGL, otogelin like, 283310

N. diseases: 9; N. variants: 8
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: rs1551122
rs1551122 		1.000 0.080 12 80372020 missense variant A/G snv 0.58 0.50
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1551122
rs1551122 		1.000 0.080 12 80372020 missense variant A/G snv 0.58 0.50
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1233562246
rs1233562246 		0.925 0.120 12 80255055 frameshift variant T/- del
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs1477766714
rs1477766714 		1.000 12 80339241 stop gained C/G;T snv
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs1477766714
rs1477766714 		1.000 12 80339241 stop gained C/G;T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397514588
rs397514588 		0.925 0.120 12 80229341 stop gained C/T snv 3.8E-05 2.8E-05
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs902734999
rs902734999 		1.000 12 80342167 splice region variant G/A snv 5.8E-06 7.0E-06
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs952235302
rs952235302 		1.000 12 80358670 splice acceptor variant G/A;C snv
CUI: C3554159
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B
DEAFNESS, AUTOSOMAL RECESSIVE 84B 		0.700 0
dbSNP: rs1233562246
rs1233562246 		0.925 0.120 12 80255055 frameshift variant T/- del
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs371465450
rs371465450 		1.000 0.120 12 80255183 stop gained C/T snv 4.5E-05 7.0E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs397514588
rs397514588 		0.925 0.120 12 80229341 stop gained C/T snv 3.8E-05 2.8E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs757774496
rs757774496 		1.000 0.120 12 80279038 stop gained C/A;T snv 3.4E-05 4.2E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013