SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
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: rs104893941
rs104893941 		0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3 		0.800 1.000 27 2002 2016
dbSNP: rs104893941
rs104893941 		0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 1.000 13 2002 2015
dbSNP: rs776749939
rs776749939 		0.925 5 179833777 missense variant C/T snv 6.0E-05 1.4E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 1.000 4 2011 2015
dbSNP: rs72807343
rs72807343 		1.000 0.080 5 179811261 intron variant C/T snv 1.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs143511494
rs143511494 		0.882 0.040 5 179836501 missense variant G/A snv 4.0E-05 6.3E-05
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3 		0.700 1.000 8 2002 2010
dbSNP: rs771966860
rs771966860 		0.925 0.040 5 179836480 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3 		0.700 1.000 8 2002 2010
dbSNP: rs776749939
rs776749939 		0.925 5 179833777 missense variant C/T snv 6.0E-05 1.4E-05
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3 		0.700 1.000 8 2002 2010
dbSNP: rs796051870
rs796051870 		0.851 0.200 5 179833783 splice donor variant G/A snv 4.0E-06 7.0E-06
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 1.000 5 2002 2016
dbSNP: rs796051870
rs796051870 		0.851 0.200 5 179833783 splice donor variant G/A snv 4.0E-06 7.0E-06
CUI: C4085251
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET
PAGET DISEASE OF BONE 2, EARLY-ONSET 		0.700 1.000 5 2002 2016
dbSNP: rs1225746517
rs1225746517 		1.000 5 179825166 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs140226523
rs140226523 		1.000 5 179833238 missense variant C/T snv 2.8E-03 9.2E-03
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs143511494
rs143511494 		0.882 0.040 5 179836501 missense variant G/A snv 4.0E-05 6.3E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs143956614
rs143956614 		1.000 5 179833725 missense variant T/C snv 4.9E-04 2.2E-03
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs145056421
rs145056421 		0.925 0.080 5 179824013 missense variant G/A snv 2.9E-04 2.9E-04
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs148294622
rs148294622 		1.000 5 179833603 missense variant A/G snv 4.0E-05 4.9E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs151191977
rs151191977 		1.000 5 179825155 missense variant C/T snv 7.6E-05 4.9E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs201263163
rs201263163 		1.000 5 179824284 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs771903158
rs771903158 		1.000 5 179823875 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 1.000 4 2011 2015
dbSNP: rs10516140
rs10516140 		5 179813910 intron variant A/C snv 0.76
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs10516140
rs10516140 		5 179813910 intron variant A/C snv 0.76
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs73351608
rs73351608 		5 179805064 non coding transcript exon variant A/T snv 2.7E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1247551175
rs1247551175 		1.000 5 179836481 missense variant T/C snv 4.0E-06
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3 		0.700 0
dbSNP: rs148366738
rs148366738 		1.000 5 179822992 missense variant C/G;T snv 8.0E-06; 2.8E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 0
dbSNP: rs181263868
rs181263868 		0.925 0.080 5 179823020 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 0
dbSNP: rs753212399
rs753212399 		1.000 5 179823941 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 0