MINDY1, MINDY lysine 48 deubiquitinase 1, 55793

N. diseases: 1; N. variants: 2
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: rs1553251507
rs1553251507 		1 151008634 frameshift variant -/GGAGG delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2012 2017
dbSNP: rs140386498
rs140386498 		1.000 0.080 1 151000483 missense variant A/T snv 9.0E-03 8.8E-03
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 2018 2018