RELA, RELA proto-oncogene, NF-kB subunit, 5970

N. diseases: 483; N. variants: 11
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: rs10896028
rs10896028
11 65664716 non coding transcript exon variant A/T snv 0.36
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs11820062
rs11820062
0.925 0.120 11 65662465 5 prime UTR variant T/C snv 0.52
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs863223356
rs863223356
1.000 0.040 11 65661693 missense variant A/G snv
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood
Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs11820062
rs11820062
0.925 0.120 11 65662465 5 prime UTR variant T/C snv 0.52
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs11820062
rs11820062
0.925 0.120 11 65662465 5 prime UTR variant T/C snv 0.52
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs1246637051
rs1246637051
0.851 0.040 11 65655714 missense variant C/T snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs1246637051
rs1246637051
0.851 0.040 11 65655714 missense variant C/T snv 7.0E-06
CUI: C0014474
Disease: Ependymoma
Ependymoma
Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs1246637051
rs1246637051
0.851 0.040 11 65655714 missense variant C/T snv 7.0E-06
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma
Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs1246637051
rs1246637051
0.851 0.040 11 65655714 missense variant C/T snv 7.0E-06
Newly Diagnosed Childhood Ependymoma
Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs1246637051
rs1246637051
0.851 0.040 11 65655714 missense variant C/T snv 7.0E-06
CUI: C1851584
Disease: Childhood Ependymoma
Childhood Ependymoma
Neoplasms 0.010 1.000 1 2020 2020
dbSNP: rs1481868107
rs1481868107
1.000 0.120 11 65654980 missense variant T/C snv
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs151125290
rs151125290
1.000 0.120 11 65661805 missense variant G/A snv 1.6E-05 7.0E-06
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2306365
rs2306365
1.000 0.040 11 65659875 non coding transcript exon variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs7101916
rs7101916
1.000 0.080 11 65663889 non coding transcript exon variant C/T snv 0.17
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs7119750
rs7119750
0.882 0.120 11 65655120 3 prime UTR variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs7119750
rs7119750
0.882 0.120 11 65655120 3 prime UTR variant C/G;T snv
CUI: C0036690
Disease: Septicemia
Septicemia
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs7119750
rs7119750
0.882 0.120 11 65655120 3 prime UTR variant C/G;T snv
CUI: C0243026
Disease: Sepsis
Sepsis
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2015 2015
dbSNP: rs770882250
rs770882250
1.000 0.120 11 65655757 missense variant T/C snv 2.4E-05 7.0E-06
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs779944761
rs779944761
1.000 0.120 11 65661817 missense variant G/A snv 4.0E-06 7.0E-06
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015