PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2008
dbSNP: rs63750215
rs63750215 		0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 1997 2015
dbSNP: rs1163242089
rs1163242089 		1.000 0.080 1 226885673 missense variant C/G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1215971988
rs1215971988 		1.000 0.080 1 226885618 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs1295645
rs1295645 		1.000 0.040 1 226871336 5 prime UTR variant C/T snv 0.15
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1347757721
rs1347757721 		1.000 0.080 1 226894058 missense variant G/C snv 7.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs140501902
rs140501902 		0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs140501902
rs140501902 		0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs140501902
rs140501902 		0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs140501902
rs140501902 		0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs140501902
rs140501902 		0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs142690225
rs142690225 		0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs142690225
rs142690225 		0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs142690225
rs142690225 		0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs143061887
rs143061887 		0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs143061887
rs143061887 		0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs143061887
rs143061887 		0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1482790603
rs1482790603 		1.000 0.080 1 226891284 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs200169735
rs200169735 		0.925 0.080 1 226895498 missense variant C/G;T snv 4.0E-06; 2.8E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs200169735
rs200169735 		0.925 0.080 1 226895498 missense variant C/G;T snv 4.0E-06; 2.8E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs200754713
rs200754713 		1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs200754713
rs200754713 		1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs202178897
rs202178897 		1.000 0.080 1 226885596 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs28936379
rs28936379 		0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 1999 1999