UBQLN2, ubiquilin 2, 29978

N. diseases: 59; N. variants: 14
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: rs387906711
rs387906711
0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2013 2019
dbSNP: rs387906709
rs387906709
0.776 0.120 X 56565363 missense variant C/A;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2019 2019