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: rs9999820
rs9999820
NPY2R
0.925 0.080 4 155197173 intron variant A/G snv 0.66
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 1.000 1 2018 2018
dbSNP: rs9999653
rs9999653
NMU
1.000 0.080 4 55632082 intron variant C/T snv 0.51
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		0.010 1.000 1 2017 2017
dbSNP: rs999947969
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.030 0.667 3 1999 2001
dbSNP: rs999947969
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2007 2007
dbSNP: rs999947969
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2007 2007
dbSNP: rs999947969
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 1999 1999
dbSNP: rs999947969
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 1.000 1 2003 2003
dbSNP: rs999947969
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 < 0.001 1 2012 2012
dbSNP: rs999947969
rs999947969
CD36
0.827 0.080 7 80671145 synonymous variant C/T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 < 0.001 1 2007 2007
dbSNP: rs999905
rs999905
NTRK3
1.000 0.040 15 88020640 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2009 2009
dbSNP: rs999885
rs999885
MCM7 ; AP4M1
0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 1.000 2 2012 2014
dbSNP: rs999885
rs999885
MCM7 ; AP4M1
0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2012 2012
dbSNP: rs999788
rs999788
IFNAR2 ; IL10RB ; IL10RB-DT
0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 1.000 1 2008 2008
dbSNP: rs999788
rs999788
IFNAR2 ; IL10RB ; IL10RB-DT
0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2013 2013
dbSNP: rs9997745
rs9997745
ACSL1
0.925 0.040 4 184816689 intron variant G/A snv 0.25
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 1.000 1 2010 2010
dbSNP: rs9997745
rs9997745
ACSL1
0.925 0.040 4 184816689 intron variant G/A snv 0.25
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2010 2010
dbSNP: rs999737
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.770 0.889 7 2009 2016
dbSNP: rs999737
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.770 0.909 7 2009 2017
dbSNP: rs999737
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		0.010 1.000 1 2016 2016
dbSNP: rs999737
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.010 1.000 1 2016 2016
dbSNP: rs999737
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs999737
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs999737
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs999716
rs999716
SLC4A1
1.000 0.160 17 44262056 non coding transcript exon variant C/G;T snv
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		0.010 1.000 1 2016 2016
dbSNP: rs9996584
rs9996584
LOC107986229
4 74556244 intron variant A/G snv 0.59
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2018 2018