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: rs2705901
rs2705901
4 184638333 intron variant G/C snv 0.88
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2009 2009
dbSNP: rs2705901
rs2705901
4 184638333 intron variant G/C snv 0.88
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2009 2009
dbSNP: rs1485215606
rs1485215606
1.000 0.040 4 184632296 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 1.000 1 2010 2010
dbSNP: rs2705897
rs2705897
0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2013 2018
dbSNP: rs2705897
rs2705897
0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2013 2018
dbSNP: rs4647603
rs4647603
0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2013 2018
dbSNP: rs4647603
rs4647603
0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2013 2018
dbSNP: rs12108497
rs12108497
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs12108497
rs12108497
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2014 2014
dbSNP: rs12108497
rs12108497
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2016 2016
dbSNP: rs12108497
rs12108497
0.851 0.080 4 184650403 intron variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs1405937
rs1405937
1.000 0.080 4 184650784 intron variant G/C snv 0.29
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2016 2016
dbSNP: rs2696056
rs2696056
1.000 0.080 4 184634082 intron variant C/A;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.010 < 0.001 1 2015 2015
dbSNP: rs2705897
rs2705897
0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2018 2018
dbSNP: rs2705897
rs2705897
0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs4647603
rs4647603
0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs4647603
rs4647603
0.925 0.080 4 184648576 5 prime UTR variant C/T snv 0.11
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2018 2018
dbSNP: rs4647693
rs4647693
0.925 0.080 4 184629610 intron variant T/C snv 0.31
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2014 2014
dbSNP: rs4647693
rs4647693
0.925 0.080 4 184629610 intron variant T/C snv 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs964793521
rs964793521
0.925 0.080 4 184638460 5 prime UTR variant C/T snv 1.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 1.000 1 2001 2001
dbSNP: rs964793521
rs964793521
0.925 0.080 4 184638460 5 prime UTR variant C/T snv 1.4E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2001 2001
dbSNP: rs111512673
rs111512673
1.000 0.120 4 184632303 missense variant A/G snv
Gerstmann-Straussler-Scheinker Disease
0.010 1.000 1 2010 2010
dbSNP: rs2720378
rs2720378
1.000 0.120 4 184646959 intron variant C/A;G;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.010 1.000 1 2014 2014