FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Disease: TREMOR, HEREDITARY ESSENTIAL, 4 ×
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: rs267606832
rs267606832 		0.882 0.040 16 31185061 missense variant C/G;T snv 1.3E-04; 4.1E-06
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.800 1.000 1 2012 2012
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.700 1.000 9 2009 2014
dbSNP: rs186547381
rs186547381 		0.925 0.040 16 31190398 missense variant C/T snv 1.2E-04 1.6E-04
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.700 0
dbSNP: rs387907274
rs387907274 		0.925 0.040 16 31189158 stop gained C/T snv
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.700 0