ANKRD55, ankyrin repeat domain 55, 79722

N. diseases: 46; N. variants: 10
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: rs71624119
rs71624119
0.776 0.200 5 56144903 intron variant G/A snv 0.17
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs71624119
rs71624119
0.776 0.200 5 56144903 intron variant G/A snv 0.17
Oligoarticular Juvenile Idiopathic Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs71624119
rs71624119
0.776 0.200 5 56144903 intron variant G/A snv 0.17
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis
Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.700 1.000 1 2015 2015
dbSNP: rs7731626
rs7731626
0.716 0.240 5 56148856 intron variant G/A snv 0.30
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
Respiratory Tract Diseases 0.010 1.000 1 2017 2017