Source: BEFREE

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: rs4705342
rs4705342
0.851 0.160 5 149428408 non coding transcript exon variant T/C;G snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.020 0.500 2 2016 2019
dbSNP: rs17723799
rs17723799
1.000 0.120 5 149427514 non coding transcript exon variant C/T snv 9.9E-02
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2019 2019
dbSNP: rs353292
rs353292
0.882 0.080 5 149428245 non coding transcript exon variant G/A snv 0.35
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.010 1.000 1 2019 2019
dbSNP: rs353292
rs353292
0.882 0.080 5 149428245 non coding transcript exon variant G/A snv 0.35
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs353292
rs353292
0.882 0.080 5 149428245 non coding transcript exon variant G/A snv 0.35
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2016 2016
dbSNP: rs353293
rs353293
0.851 0.160 5 149427663 non coding transcript exon variant C/T snv 0.33
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 1.000 1 2016 2016
dbSNP: rs353293
rs353293
0.851 0.160 5 149427663 non coding transcript exon variant C/T snv 0.33
Malignant neoplasm of urinary bladder
0.010 1.000 1 2016 2016
dbSNP: rs353293
rs353293
0.851 0.160 5 149427663 non coding transcript exon variant C/T snv 0.33
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2013 2013
dbSNP: rs353293
rs353293
0.851 0.160 5 149427663 non coding transcript exon variant C/T snv 0.33
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 1.000 1 2016 2016
dbSNP: rs41291957
rs41291957
0.882 0.200 5 149428827 intron variant G/A snv 0.12
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2013 2013
dbSNP: rs41291957
rs41291957
0.882 0.200 5 149428827 intron variant G/A snv 0.12
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2014 2014
dbSNP: rs41291957
rs41291957
0.882 0.200 5 149428827 intron variant G/A snv 0.12
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 1.000 1 2014 2014
dbSNP: rs41291957
rs41291957
0.882 0.200 5 149428827 intron variant G/A snv 0.12
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2019 2019
dbSNP: rs41291957
rs41291957
0.882 0.200 5 149428827 intron variant G/A snv 0.12
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs41291957
rs41291957
0.882 0.200 5 149428827 intron variant G/A snv 0.12
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs41291957
rs41291957
0.882 0.200 5 149428827 intron variant G/A snv 0.12
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.010 1.000 1 2014 2014
dbSNP: rs4705342
rs4705342
0.851 0.160 5 149428408 non coding transcript exon variant T/C;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs4705342
rs4705342
0.851 0.160 5 149428408 non coding transcript exon variant T/C;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2016 2016
dbSNP: rs4705342
rs4705342
0.851 0.160 5 149428408 non coding transcript exon variant T/C;G snv
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.010 1.000 1 2017 2017
dbSNP: rs4705343
rs4705343
0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.010 1.000 1 2016 2016
dbSNP: rs4705343
rs4705343
0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs4705343
rs4705343
0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.010 1.000 1 2017 2017
dbSNP: rs4705343
rs4705343
0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs4705343
rs4705343
0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2019 2019
dbSNP: rs4705343
rs4705343
0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2018 2018