DDX39B, DExD-box helicase 39B, 7919

N. diseases: 50; N. variants: 23
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: rs114050967
rs114050967
1.000 0.080 6 31537703 intron variant A/G snv
CUI: C0027121
Disease: Myositis
Myositis
Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9267488
rs9267488
1.000 0.080 6 31546470 splice region variant A/G snv 8.1E-02 9.9E-02
CUI: C0027121
Disease: Myositis
Myositis
Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015