PCDH15, protocadherin related 15, 65217

N. diseases: 36; N. variants: 118
Disease: Deafness, Autosomal Recessive 23 ×
Source: CURATED ×
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: rs137853002
rs137853002 		1.000 0.120 10 54317362 missense variant C/T snv
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.810 1.000 3 2003 2017
dbSNP: rs137853003
rs137853003 		0.925 0.200 10 54369194 stop gained G/A;C;T snv 4.0E-06; 1.2E-05
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.810 1.000 3 2003 2017
dbSNP: rs267606932
rs267606932 		1.000 0.120 10 54183451 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 0 2009 2009
dbSNP: rs111033260
rs111033260 		0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 2003 2015
dbSNP: rs1056396947
rs1056396947 		1.000 0.120 10 53809339 stop gained G/A snv
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516342
rs1057516342 		0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137853001
rs137853001 		0.925 0.200 10 54664256 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554883705
rs1554883705 		0.925 0.200 10 53961893 splice acceptor variant C/A snv
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564949059
rs1564949059 		1.000 0.120 10 54317359 missense variant G/T snv
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs202033121
rs202033121 		0.882 0.200 10 53938872 stop gained G/A snv 2.0E-05
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs483352837
rs483352837 		1.000 0.120 10 54023049 inframe deletion CAA/- delins 5.6E-05 7.0E-05
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs766484375
rs766484375 		0.925 0.200 10 53806811 frameshift variant -/T delins 2.4E-05 4.9E-05
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0