ERBB4, erb-b2 receptor tyrosine kinase 4, 2066

N. diseases: 317; N. variants: 75
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: rs397514262
rs397514262 		1.000 2 211424241 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C3715155
Disease: AMYOTROPHIC LATERAL SCLEROSIS 19
AMYOTROPHIC LATERAL SCLEROSIS 19 		0.800 1.000 1 2013 2013
dbSNP: rs397514263
rs397514263 		1.000 2 211383719 missense variant G/A snv 4.0E-05 7.0E-06
CUI: C3715155
Disease: AMYOTROPHIC LATERAL SCLEROSIS 19
AMYOTROPHIC LATERAL SCLEROSIS 19 		0.800 1.000 1 2013 2013
dbSNP: rs1351592
rs1351592 		1.000 0.120 2 212529988 intron variant C/G snv 0.29
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 2 2015 2017
dbSNP: rs13393577
rs13393577 		0.851 0.120 2 212432139 intron variant T/C snv 0.10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2012 2012
dbSNP: rs13393577
rs13393577 		0.851 0.120 2 212432139 intron variant T/C snv 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2012 2012
dbSNP: rs10174084
rs10174084 		1.000 0.040 2 211668083 intron variant A/G snv 7.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10207288
rs10207288 		1.000 0.040 2 211676652 intron variant C/T snv 0.71
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs115683961
rs115683961 		2 211521195 intron variant A/G snv 3.9E-02
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11693031
rs11693031 		1.000 0.040 2 211813206 intron variant A/G;T snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs11693031
rs11693031 		1.000 0.040 2 211813206 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs12373751
rs12373751 		1.000 0.040 2 212072166 intron variant T/C snv 0.62
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12694277
rs12694277 		2 212324070 intron variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs13019783
rs13019783 		1.000 0.040 2 211673690 intron variant T/G snv 9.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13428799
rs13428799 		2 212537150 intron variant C/G snv 1.7E-02
CUI: C0428419
Disease: Triiodothyronine measurement
Triiodothyronine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1394780
rs1394780 		2 212418466 intron variant T/G snv 0.24
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443 		0.851 0.080 2 212050001 intron variant C/A;T snv
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs16825008
rs16825008 		2 211440116 intron variant A/G snv 0.27
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1879532
rs1879532 		1.000 0.040 2 211574587 intron variant T/A;C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs1949651
rs1949651 		2 212252904 intron variant C/T snv 0.43
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs202247795
rs202247795 		1.000 0.040 2 211702102 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs2178575
rs2178575 		1.000 0.120 2 212527042 intron variant G/A;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2220024
rs2220024 		2 212467655 intron variant A/G snv 0.43
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019