EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
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: rs104894161
rs104894161 		0.807 0.080 10 62813563 missense variant G/A snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.830 1.000 3 1999 2005
dbSNP: rs104894159
rs104894159 		0.827 0.080 10 62813413 missense variant G/A snv
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 1998 2005
dbSNP: rs104894161
rs104894161 		0.807 0.080 10 62813563 missense variant G/A snv
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 1998 2005
dbSNP: rs104894158
rs104894158 		0.851 0.080 10 62813835 missense variant A/T snv
CUI: C4721436
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 1998 2012
dbSNP: rs224278
rs224278 		1.000 0.040 10 62820815 intron variant C/T snv 0.39
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		Neoplasms 0.800 1.000 1 2012 2012
dbSNP: rs281865137
rs281865137 		0.851 0.080 10 62813496 missense variant C/T snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 7 2000 2014
dbSNP: rs104894160
rs104894160 		0.925 0.080 10 62813491 missense variant C/A snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs104894160
rs104894160 		0.925 0.080 10 62813491 missense variant C/A snv
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 1998 2005
dbSNP: rs104894161
rs104894161 		0.807 0.080 10 62813563 missense variant G/A snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 1999 2016
dbSNP: rs281865137
rs281865137 		0.851 0.080 10 62813496 missense variant C/T snv
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
Charcot-Marie-Tooth disease, Type 1D (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 1998 2005
dbSNP: rs864622273
rs864622273 		0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 1998 2016
dbSNP: rs10761674
rs10761674 		10 62858580 intron variant C/G;T snv
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs113764414
rs113764414 		10 62889636 intron variant A/G snv 3.6E-04
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1980663
rs1980663 		10 62859578 intron variant G/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2136613
rs2136613 		0.925 0.080 10 62834404 intron variant C/G;T snv
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2136613
rs2136613 		0.925 0.080 10 62834404 intron variant C/G;T snv
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.700 1.000 1 2016 2016
dbSNP: rs61865900
rs61865900 		1.000 0.080 10 62822722 intron variant T/C snv 4.9E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs944684
rs944684 		1.000 0.040 10 62916616 intron variant C/T snv 0.80
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs104894158
rs104894158 		0.851 0.080 10 62813835 missense variant A/T snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894159
rs104894159 		0.827 0.080 10 62813413 missense variant G/A snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894161
rs104894161 		0.807 0.080 10 62813563 missense variant G/A snv
CUI: C4016028
Disease: DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121434563
rs121434563 		1.000 10 62813404 missense variant C/T snv
CUI: C4016028
Disease: DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs281865136
rs281865136 		0.882 0.120 10 62813562 missense variant C/T snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs281865138
rs281865138 		1.000 0.080 10 62813492 missense variant A/C snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs281865139
rs281865139 		0.925 0.080 10 62813478 missense variant G/T snv
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0