RSBN1, round spermatid basic protein 1, 54665

N. diseases: 3; N. variants: 4
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: rs2797409
rs2797409
1.000 0.120 1 113787580 intron variant T/C snv 0.27
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C0018213
Disease: Graves Disease
Graves Disease
Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2007 2010
dbSNP: rs12144309
rs12144309
1 113772871 intron variant C/T snv 0.19
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C0003864
Disease: Arthritis
Arthritis
Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD)
0.010 1.000 1 2010 2010
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs3789604
rs3789604
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3811021
rs3811021
1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3811021
rs3811021
1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010