ZNRD2, zinc ribbon domain containing 2, 10534

N. diseases: 311; 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: rs3782089
rs3782089 		11 65569348 non coding transcript exon variant C/T snv 5.7E-02
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs3782089
rs3782089 		11 65569348 non coding transcript exon variant C/T snv 5.7E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1190999960
rs1190999960 		0.807 0.240 11 65571690 missense variant G/A snv
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1290923018
rs1290923018 		0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1290923018
rs1290923018 		0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1290923018
rs1290923018 		0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1290923018
rs1290923018 		0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1290923018
rs1290923018 		0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs745594285
rs745594285 		1.000 0.120 11 65571531 missense variant A/C snv 4.0E-06
CUI: C2676191
Disease: PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder) 		Neoplasms; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs750814369
rs750814369 		1.000 0.080 11 65570617 missense variant C/A;T snv 2.8E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs750814369
rs750814369 		1.000 0.080 11 65570617 missense variant C/A;T snv 2.8E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs750814369
rs750814369 		1.000 0.080 11 65570617 missense variant C/A;T snv 2.8E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs758434928
rs758434928 		0.925 0.160 11 65570895 missense variant C/T snv 4.8E-05 1.4E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs758434928
rs758434928 		0.925 0.160 11 65570895 missense variant C/T snv 4.8E-05 1.4E-05
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs777803098
rs777803098 		1.000 0.080 11 65571523 missense variant C/G snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010