CDC14A, cell division cycle 14A, 8556

N. diseases: 26; 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: rs369245990
rs369245990 		1.000 0.120 1 100468052 missense variant G/A;C snv 1.2E-05; 8.0E-06
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 2016 2018
dbSNP: rs148737918
rs148737918 		1.000 0.120 1 100468051 missense variant C/G;T snv 8.0E-06
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17420882
rs17420882 		1 100353172 intron variant T/G snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs549556142
rs549556142 		0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs612683
rs612683 		1.000 0.080 1 100414772 intron variant A/T snv 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs777112652
rs777112652 		1.000 0.120 1 100484329 stop gained C/T snv 8.5E-06 7.0E-06
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs876661408
rs876661408 		0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1339709390
rs1339709390 		1.000 0.120 1 100468076 missense variant A/C snv 4.0E-06
CUI: C1837608
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32
DEAFNESS, AUTOSOMAL RECESSIVE 32 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs549556142
rs549556142 		0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06
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: rs876661408
rs876661408 		0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0