SORL1, sortilin related receptor 1, 6653

N. diseases: 103; N. variants: 29
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: rs11218343
rs11218343 		0.925 0.080 11 121564878 intron variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.830 1.000 8 2013 2019
dbSNP: rs2282649
rs2282649 		1.000 0.080 11 121608249 non coding transcript exon variant C/T snv 0.27
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2009 2019
dbSNP: rs641120
rs641120 		0.882 0.080 11 121510256 intron variant G/A snv 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2013 2018
dbSNP: rs668387
rs668387 		1.000 0.080 11 121497212 intron variant C/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2009 2016
dbSNP: rs1133174
rs1133174 		0.882 0.120 11 121631046 3 prime UTR variant G/A snv 0.55
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2018
dbSNP: rs1784933
rs1784933 		0.882 0.080 11 121618707 intron variant G/A snv 0.84
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2017
dbSNP: rs689021
rs689021 		0.925 0.080 11 121500411 intron variant G/A snv 0.40
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2015 2017
dbSNP: rs689021
rs689021 		0.925 0.080 11 121500411 intron variant G/A snv 0.40
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2016 2018
dbSNP: rs11218304
rs11218304 		0.925 0.080 11 121478402 intron variant A/G snv 0.30
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs11218304
rs11218304 		0.925 0.080 11 121478402 intron variant A/G snv 0.30
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs11218343
rs11218343 		0.925 0.080 11 121564878 intron variant T/A;C snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1133174
rs1133174 		0.882 0.120 11 121631046 3 prime UTR variant G/A snv 0.55
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1133174
rs1133174 		0.882 0.120 11 121631046 3 prime UTR variant G/A snv 0.55
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12285364
rs12285364 		1.000 0.080 11 121522517 intron variant C/T snv 6.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs12285364
rs12285364 		1.000 0.080 11 121522517 intron variant C/T snv 6.7E-02
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2009 2009
dbSNP: rs17125349
rs17125349 		11 121453498 intron variant T/C snv 5.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1784933
rs1784933 		0.882 0.080 11 121618707 intron variant G/A snv 0.84
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1784933
rs1784933 		0.882 0.080 11 121618707 intron variant G/A snv 0.84
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs3781834
rs3781834 		1.000 0.080 11 121575231 intron variant A/G snv 2.5E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs3824966
rs3824966 		1.000 0.080 11 121577474 intron variant C/G;T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs4935774
rs4935774 		0.925 0.080 11 121451045 intron variant T/C snv 0.32
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4935774
rs4935774 		0.925 0.080 11 121451045 intron variant T/C snv 0.32
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs536360
rs536360 		1.000 0.080 11 121457328 intron variant C/A;T snv 0.52
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs556349
rs556349 		1.000 0.080 11 121555498 intron variant T/A;G snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs641120
rs641120 		0.882 0.080 11 121510256 intron variant G/A snv 0.38
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2015 2015