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: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.830 1.000 3 2012 2019
dbSNP: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.820 1.000 2 2011 2019
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer
0.810 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.740 1.000 4 2009 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.740 1.000 4 2009 2015
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.720 1.000 2 2013 2018
dbSNP: rs529565
rs529565
ABO
0.851 0.120 9 133274084 intron variant C/T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.720 0.667 2 2016 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
Diabetes Mellitus, Non-Insulin-Dependent
0.710 1.000 1 2018 2019
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.020 < 0.001 2 2013 2017
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2014 2015
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2014 2015
dbSNP: rs2073824
rs2073824
ABO
9 133257246 intron variant A/G snv 0.40
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 1.000 1 2017 2017
dbSNP: rs2519093
rs2519093
ABO
0.882 0.200 9 133266456 intron variant T/C snv
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
0.010 1.000 1 2017 2017
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
Infection caused by Helicobacter pylori
0.010 1.000 1 2018 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke
0.010 < 0.001 1 2013 2013
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2015 2015
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.010 1.000 1 2018 2018
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 1.000 1 2015 2015
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
0.010 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2012 2012