Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
0.010 1.000 1 2013 2013
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
0.010 1.000 1 2013 2013
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
Diabetes Mellitus, Non-Insulin-Dependent
0.020 1.000 2 2012 2014
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 1.000 1 2014 2014
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 1.000 1 2015 2015
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 1.000 1 2016 2016
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 1.000 1 2016 2016
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 1.000 1 2016 2016
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 0.750 4 2003 2017
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 0.750 4 2003 2017
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 1.000 2 2008 2017
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.020 1.000 2 2008 2017
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 1.000 2 2008 2017
dbSNP: rs4025935
rs4025935
1.000 0.080 1 109686818 intron variant GT/- delins
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
0.010 1.000 1 2017 2017
dbSNP: rs115929572
rs115929572
1 109703431 intron variant G/A;T snv 5.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.010 1.000 1 2018 2018
dbSNP: rs768623239
rs768623239
0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2018 2018
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2019 2019
dbSNP: rs536289169
rs536289169
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 1.000 1 2019 2019