AKAP9, A-kinase anchoring protein 9, 10142

N. diseases: 60; N. variants: 18
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: rs6964587
rs6964587 		0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 4 2008 2017
dbSNP: rs10644111
rs10644111 		1.000 0.080 7 92022864 protein altering variant -/AAC delins 0.39 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121908566
rs121908566 		1.000 0.120 7 92040690 missense variant C/T snv 8.2E-06
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs149454736
rs149454736 		1.000 0.080 7 92101277 intron variant A/T snv 3.1E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1563145763
rs1563145763 		1.000 0.120 7 92099838 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs730880043
rs730880043 		1.000 0.120 7 92001406 stop gained G/T snv
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs756245027
rs756245027 		1.000 0.080 7 92096848 missense variant G/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs796052199
rs796052199 		1.000 0.120 7 92002212 missense variant T/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs796052200
rs796052200 		1.000 0.120 7 92045186 missense variant T/A snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs144662445
rs144662445 		1.000 0.080 7 92079771 missense variant A/G snv 6.1E-04 2.5E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2018
dbSNP: rs149979685
rs149979685 		1.000 0.080 7 92102796 missense variant C/T snv 4.1E-04 1.4E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2018
dbSNP: rs6964587
rs6964587 		0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2011
dbSNP: rs11772585
rs11772585 		7 91952189 intron variant C/T snv 0.11
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2014 2014
dbSNP: rs2282972
rs2282972 		7 92037055 intron variant C/G;T snv
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2014 2014
dbSNP: rs371245265
rs371245265 		1.000 0.080 7 91940884 5 prime UTR variant CGGCGGCGG/-;CGG;CGGCGG;CGGCGGCGGCGG;CGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGGCGG delins
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs6960867
rs6960867 		0.882 0.080 7 92083384 missense variant A/G snv 0.36 0.34
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6960867
rs6960867 		0.882 0.080 7 92083384 missense variant A/G snv 0.36 0.34
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6960867
rs6960867 		0.882 0.080 7 92083384 missense variant A/G snv 0.36 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6964587
rs6964587 		0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs6964587
rs6964587 		0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs765388668
rs765388668 		1.000 0.080 7 92002488 missense variant T/A snv 8.1E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs765388668
rs765388668 		1.000 0.080 7 92002488 missense variant T/A snv 8.1E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs765388668
rs765388668 		1.000 0.080 7 92002488 missense variant T/A snv 8.1E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs771608420
rs771608420 		1.000 0.080 7 92001217 missense variant C/A;T snv 2.0E-05; 8.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs7808587
rs7808587 		7 91990782 intron variant G/A snv 0.57
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2014 2014