SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
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: rs1114167303
rs1114167303
0.925 0.120 21 33553079 frameshift variant GGTAT/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039773
rs886039773
0.925 0.120 21 33554982 frameshift variant TTAG/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039777
rs886039777
0.925 0.120 21 33549517 stop gained C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039778
rs886039778
0.925 0.120 21 33552303 frameshift variant -/A delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs886039779
rs886039779
0.925 0.120 21 33557227 frameshift variant C/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2016 2016