RORC, RAR related orphan receptor C, 6097

N. diseases: 88; N. variants: 6
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: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.800 1.000 3 2012 2017
dbSNP: rs774357869
rs774357869
1.000 1 151817238 missense variant G/A snv 4.0E-06
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42
0.800 1.000 1 2015 2015
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs11204896
rs11204896
1 151824266 intron variant C/G snv 7.6E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3828058
rs3828058
1.000 0.080 1 151813805 non coding transcript exon variant G/A snv 0.31
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases
Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4845604
rs4845604
0.776 0.200 1 151829204 intron variant G/A;C;T snv
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs863225091
rs863225091
1.000 1 151813569 stop gained G/A snv
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42
0.700 0
dbSNP: rs863225092
rs863225092
1.000 1 151811399 stop gained G/A snv
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42
0.700 0