PLD4, phospholipase D family member 4, 122618

N. diseases: 12; N. variants: 3
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: rs2841277
rs2841277
0.882 0.120 14 104924668 upstream gene variant C/T snv 0.41
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.810 1.000 2 2012 2017
dbSNP: rs2582532
rs2582532
1.000 0.120 14 104926500 intron variant T/C snv 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs1048257
rs1048257
1.000 0.080 14 104938047 3 prime UTR variant T/C;G snv 0.54
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2841277
rs2841277
0.882 0.120 14 104924668 upstream gene variant C/T snv 0.41
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2841277
rs2841277
0.882 0.120 14 104924668 upstream gene variant C/T snv 0.41
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013