TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
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: rs137852999
rs137852999
1.000 0.120 21 42383062 missense variant C/G snv
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2001 2005
dbSNP: rs137853000
rs137853000
1.000 0.120 21 42383168 missense variant C/A;T snv 8.0E-06
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2001 2005
dbSNP: rs28939084
rs28939084
1.000 0.120 21 42375852 missense variant G/A snv 1.2E-05 1.4E-05
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2001 2005
dbSNP: rs387906915
rs387906915
1.000 0.120 21 42388943 missense variant T/C snv
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 2001 2005
dbSNP: rs727503493
rs727503493
1.000 0.120 21 42389043 frameshift variant G/- delins 4.9E-04 5.7E-04
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 2002 2016
dbSNP: rs727503493
rs727503493
1.000 0.120 21 42389043 frameshift variant G/- delins 4.9E-04 5.7E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 6 2003 2017
dbSNP: rs181949335
rs181949335
0.925 0.120 21 42382101 missense variant C/T snv 1.4E-04 1.9E-04
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 5 2007 2017
dbSNP: rs147231991
rs147231991
1.000 0.120 21 42388436 missense variant G/T snv 9.2E-04 1.2E-03
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2005 2012
dbSNP: rs1060499811
rs1060499811
1.000 0.120 21 42384004 stop gained A/T snv
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1237955948
rs1237955948
1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1237955948
rs1237955948
1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1333651774
rs1333651774
1.000 0.120 21 42384005 missense variant C/A snv 4.0E-06 7.0E-06
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1429442821
rs1429442821
1.000 0.120 21 42380116 splice donor variant C/T snv
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1429442821
rs1429442821
1.000 0.120 21 42380116 splice donor variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs56264519
rs56264519
1.000 0.120 21 42375787 missense variant C/T snv 9.7E-04 1.0E-03
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs773780151
rs773780151
1.000 0.120 21 42375844 missense variant A/G snv 3.6E-05 7.0E-06
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs181949335
rs181949335
0.925 0.120 21 42382101 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2007 2017
dbSNP: rs11203200
rs11203200
0.925 0.080 21 42394466 intron variant G/A snv 9.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11203200
rs11203200
0.925 0.080 21 42394466 intron variant G/A snv 9.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs139805921
rs139805921
1.000 0.120 21 42388935 missense variant G/A snv 2.1E-04 1.0E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs139805921
rs139805921
1.000 0.120 21 42388935 missense variant G/A snv 2.1E-04 1.0E-04
CUI: C4022756
Disease: Profound hearing impairment
Profound hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs145913750
rs145913750
21 42383169 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs181949335
rs181949335
0.925 0.120 21 42382101 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C4022756
Disease: Profound hearing impairment
Profound hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3814903
rs3814903
0.925 0.080 21 42397008 upstream gene variant G/T snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3814903
rs3814903
0.925 0.080 21 42397008 upstream gene variant G/T snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014