ESRRB, estrogen related receptor beta, 2103

N. diseases: 102; N. variants: 7
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: rs121909110
rs121909110 		1.000 0.120 14 76439682 missense variant C/T snv
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2008 2008
dbSNP: rs121909111
rs121909111 		1.000 0.120 14 76491683 missense variant G/T snv 4.9E-06
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2008 2008
dbSNP: rs201714970
rs201714970 		1.000 0.120 14 76498322 missense variant C/A;T snv 1.2E-04
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1060499794
rs1060499794 		1.000 0.120 14 76482046 missense variant G/A snv
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs375916159
rs375916159 		1.000 0.120 14 76482759 missense variant G/A;T snv
CUI: C1837857
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35
DEAFNESS, AUTOSOMAL RECESSIVE 35 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1269396908
rs1269396908 		14 76439579 missense variant T/C snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6574293
rs6574293 		14 76404257 intron variant A/G snv 0.89
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2016 2016