SORL1, sortilin related receptor 1, 6653

N. diseases: 103; N. variants: 29
Disease: Alzheimer Disease, Late Onset ×
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: 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: 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: 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: 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: rs12364988
rs12364988 		1.000 0.080 11 121496917 missense variant T/A;C;G snv 0.49; 4.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
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: rs17125548
rs17125548 		1.000 0.080 11 121618854 synonymous variant G/A snv 3.8E-02 9.0E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2276412
rs2276412 		1.000 0.080 11 121590137 missense variant C/G;T snv 4.0E-06; 3.2E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
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: 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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs661057
rs661057 		1.000 0.080 11 121458245 intron variant T/C snv 0.40
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009