USP48, ubiquitin specific peptidase 48, 84196

N. diseases: 18; N. variants: 3
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: rs17423390
rs17423390 		1 21687978 intron variant G/T snv 0.44
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1825307
rs1825307 		1.000 0.080 1 21741833 intron variant A/G snv 0.74
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs193921025
rs193921025 		1.000 0.120 1 21729761 start lost T/C snv
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma 		Neoplasms; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018