MYO5B, myosin VB, 4645

N. diseases: 60; N. variants: 21
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: rs1555793103
rs1555793103
0.882 0.240 18 49836710 splice donor variant C/G snv
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1555793199
rs1555793199
0.882 0.240 18 49837750 frameshift variant G/- delins
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0