AP4B1-AS1, AP4B1 antisense RNA 1, 100287722

N. diseases: 13; N. variants: 38
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: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 1.000 0.877 81 2005 2019
dbSNP: rs12566340
rs12566340
0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.710 0.500 2 2009 2010
dbSNP: rs6665194
rs6665194
1.000 0.120 1 113875221 intron variant G/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.710 1.000 2 2009 2017
dbSNP: rs1217393
rs1217393
0.851 0.160 1 113891324 intron variant G/A snv 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1217407
rs1217407
1.000 0.120 1 113851126 intron variant A/G snv 0.77
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: rs1217413
rs1217413
1.000 0.120 1 113815128 intron variant G/A snv 0.82
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1217418
rs1217418
0.925 0.120 1 113858609 intron variant A/G snv 0.53 0.57
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: rs7529353
rs7529353
1.000 0.120 1 113877840 3 prime UTR variant G/A snv 0.26
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: rs33996649
rs33996649
0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.040 1.000 4 2011 2019
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: rs1310182
rs1310182
0.882 0.360 1 113830881 intron variant A/C;G snv 0.56
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs2488457
rs2488457
0.763 0.480 1 113872746 intron variant G/A;C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017