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: 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: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2016 2018
dbSNP: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C0349081
Disease: Dementia in Parkinson's disease
Dementia in Parkinson's disease 		0.010 1.000 1 2018 2018
dbSNP: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2070045
rs2070045 		0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.050 1.000 5 2009 2016
dbSNP: rs2070045
rs2070045 		0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2015
dbSNP: rs2070045
rs2070045 		0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2070045
rs2070045 		0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1010159
rs1010159 		0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.040 1.000 4 2009 2018
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: 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: rs1699102
rs1699102 		0.882 0.080 11 121586253 missense variant C/G;T snv 3.2E-05; 0.53
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2009 2012
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: rs1010159
rs1010159 		0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1010159
rs1010159 		0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2015 2015
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: rs1699102
rs1699102 		0.882 0.080 11 121586253 missense variant C/G;T snv 3.2E-05; 0.53
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1699102
rs1699102 		0.882 0.080 11 121586253 missense variant C/G;T snv 3.2E-05; 0.53
CUI: C0236848
Disease: Age-related cognitive decline
Age-related cognitive decline 		Mental Disorders 0.010 1.000 1 2017 2017
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