SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
Disease: Action Myoclonus-Renal Failure Syndrome ×
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: rs758857853
rs758857853 		1.000 0.040 4 76169893 missense variant G/T snv 4.0E-06
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.810 1.000 5 2008 2011
dbSNP: rs886041076
rs886041076 		1.000 0.040 4 76176436 splice donor variant C/G;T snv
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 3 2009 2014
dbSNP: rs121909118
rs121909118 		1.000 0.040 4 76174276 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 2 2008 2011
dbSNP: rs886041075
rs886041075 		1.000 0.040 4 76176471 stop gained GGTAA/- delins 4.0E-06
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 2 2009 2011
dbSNP: rs886041078
rs886041078 		1.000 0.040 4 76163353 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs886041079
rs886041079 		1.000 0.040 4 76163233 frameshift variant TGGATC/GGTGCATGCAT delins
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs121909119
rs121909119 		1.000 0.040 4 76179596 stop gained C/T snv
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs200053119
rs200053119 		0.925 0.040 4 76181016 stop gained G/A snv 8.0E-06 2.8E-05
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs727502772
rs727502772 		1.000 0.040 4 76166249 splice donor variant C/A snv
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs727502773
rs727502773 		1.000 0.040 4 76179693 frameshift variant -/CT delins 8.0E-05 1.5E-04
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs727502781
rs727502781 		1.000 0.040 4 76168478 splice acceptor variant T/G snv
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs727502782
rs727502782 		1.000 0.040 4 76163365 frameshift variant C/- del
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs727502783
rs727502783 		1.000 0.040 4 76168400 splice donor variant -/A delins 8.0E-06
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs755903502
rs755903502 		0.882 0.120 4 76161738 stop gained T/A;C snv 4.0E-05; 4.0E-06
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs774271963
rs774271963 		1.000 0.040 4 76176432 splice region variant C/T snv 8.0E-06 7.0E-06
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs886041072
rs886041072 		1.000 0.040 4 76213433 frameshift variant G/- del
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs886041073
rs886041073 		1.000 0.040 4 76181081 frameshift variant T/- delins
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs886041074
rs886041074 		1.000 0.040 4 76179707 splice acceptor variant T/G snv
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs886041077
rs886041077 		1.000 0.040 4 76169963 frameshift variant -/A delins 1.2E-05
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1553948516
rs1553948516 		0.925 0.120 4 76181009 frameshift variant -/G delins
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		Nervous System Diseases 0.700 0