CAPN14, calpain 14, 440854

N. diseases: 7; N. variants: 5
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: rs149864795
rs149864795
1.000 0.120 2 31179541 intron variant G/A snv 4.8E-02
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs77569859
rs77569859
1.000 0.120 2 31188421 intron variant T/C snv 4.1E-02
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs6736278
rs6736278
1.000 0.120 2 31220009 intron variant C/T snv 5.4E-02
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018