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: 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: 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: rs377498269
rs377498269
1.000 0.080 11 121558698 missense variant A/G snv 4.0E-05 4.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs747306346
rs747306346
1.000 0.080 11 121589385 missense variant A/G snv 6.8E-05 5.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs766895956
rs766895956
1.000 0.080 11 121621088 missense variant C/G snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
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: 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: 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: rs3824968
rs3824968
0.925 0.080 11 121605213 synonymous variant T/A snv 0.39 0.29
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.040 1.000 4 2009 2016
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: 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: 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: 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: 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: 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: 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