PDS5A, PDS5 cohesin associated factor A, 23244

N. diseases: 16; 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: rs142278384
rs142278384 		4 39958606 intron variant TT/-;T;TTT;TTTTTTTTT delins 0.62
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs142278384
rs142278384 		4 39958606 intron variant TT/-;T;TTT;TTTTTTTTT delins 0.62
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs177529
rs177529 		4 39839536 intron variant T/C snv 0.27
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2101122
rs2101122 		1.000 0.120 4 39856900 intron variant C/A;T snv
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: rs461304
rs461304 		1.000 0.120 4 39842473 intron variant G/T snv 0.31
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: rs73229728
rs73229728 		4 39971570 intron variant A/G snv 9.3E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs73229728
rs73229728 		4 39971570 intron variant A/G snv 9.3E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs7671295
rs7671295 		4 39852592 intron variant T/C snv 0.27
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018