LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; 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: rs201587138
rs201587138 		1.000 0.120 18 46529227 stop gained G/A;C;T snv 6.1E-04; 6.3E-06
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2012 2015
dbSNP: rs75949023
rs75949023 		1.000 0.120 18 46524734 stop gained G/A;T snv 1.8E-04; 1.4E-02
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2011 2014
dbSNP: rs72913475
rs72913475 		18 46590193 intron variant T/C snv 7.3E-02
CUI: C1266708
Disease: Polybrominated biphenyl measurement
Polybrominated biphenyl measurement 		0.700 1.000 1 2017 2017
dbSNP: rs886044666
rs886044666 		1.000 0.120 18 46639685 stop gained T/A snv 2.6E-05 2.8E-05
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121918370
rs121918370 		1.000 0.120 18 46572125 stop gained G/A snv 1.3E-05 1.4E-05
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1248889536
rs1248889536 		18 46610789 stop gained C/A;T snv 7.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs373937326
rs373937326 		1.000 0.120 18 46534448 stop gained C/A;T snv 1.3E-05; 6.3E-06
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs749861944
rs749861944 		1.000 0.120 18 46534452 splice acceptor variant C/G;T snv 6.3E-06
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs768835732
rs768835732 		1.000 0.120 18 46524499 missense variant C/G;T snv 2.0E-04; 6.3E-06
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853231
rs878853231 		1.000 0.120 18 46485120 frameshift variant -/C delins
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs961865375
rs961865375 		1.000 0.120 18 46522184 stop gained G/A snv 8.8E-05 1.4E-05
CUI: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs778568636
rs778568636 		1.000 0.120 18 46505856 missense variant C/A snv 6.4E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016