AKAP13, A-kinase anchoring protein 13, 11214

N. diseases: 73; N. variants: 15
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: rs10520597
rs10520597 		15 85627024 intron variant G/A snv 0.27
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12907384
rs12907384 		15 85732769 intron variant T/A;C snv
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs12909648
rs12909648 		15 85681339 intron variant G/A snv 0.40
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs12909648
rs12909648 		15 85681339 intron variant G/A snv 0.40
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs16941432
rs16941432 		15 85559945 intron variant A/G snv 0.37
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2169876
rs2169876 		15 85542545 intron variant T/A;C snv
CUI: C0877208
Disease: Peripartum cardiomyopathy
Peripartum cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2169877
rs2169877 		15 85542571 intron variant G/A snv 0.70
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2880765
rs2880765 		1.000 0.040 15 85513231 intron variant A/T snv 0.48
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs338533
rs338533 		15 85708862 intron variant G/T snv 0.24
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs56241813
rs56241813 		15 85721280 intron variant G/A snv 7.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs62022112
rs62022112 		15 85466377 intron variant T/G snv 0.14
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs62024517
rs62024517 		15 85404905 intron variant T/C snv 0.14
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs74346567
rs74346567 		15 85706491 intron variant G/A snv 6.1E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs34434221
rs34434221 		0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2007
dbSNP: rs2241268
rs2241268 		1.000 0.080 15 85735078 missense variant G/A snv 0.22 0.19
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs34434221
rs34434221 		0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs34434221
rs34434221 		0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4843075
rs4843075 		1.000 0.080 15 85581324 missense variant G/A;C snv 0.61; 4.0E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006