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: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		0.010 1.000 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		0.010 1.000 1 2017 2017
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 < 0.001 1 2014 2014
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C4553752
Disease: Stage IV Prostate Cancer AJCC v8
Stage IV Prostate Cancer AJCC v8 		0.010 1.000 1 2015 2015
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.010 < 0.001 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0033575
Disease: Prostatic Diseases
Prostatic Diseases 		0.010 1.000 1 2012 2012
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2017 2017
dbSNP: rs10011796
rs10011796
ABCG2
0.882 0.160 4 88169725 intron variant T/C;G snv
CUI: C0221248
Disease: Tophus
Tophus 		0.010 1.000 1 2017 2017
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 < 0.001 1 2015 2015
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs10012
rs10012
CYP1B1 ; CYP1B1-AS1
0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs10012946
rs10012946
WFS1
1.000 0.080 4 6291623 intron variant T/C snv 0.63
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2008 2008
dbSNP: rs10013040
rs10013040
NEIL3
1.000 0.080 4 177309998 synonymous variant C/A snv 0.20 0.20
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 < 0.001 1 2015 2015
dbSNP: rs10013495
rs10013495 		1.000 0.040 4 144584486 intron variant C/T snv 0.23
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2013 2013
dbSNP: rs10014145
rs10014145
SLC39A8
1.000 0.040 4 102279420 intron variant A/G snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
dbSNP: rs10014396
rs10014396
SNCA
1.000 0.040 4 89791478 intron variant T/C snv 0.17
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2012 2012
dbSNP: rs10014424
rs10014424
DNAJB14
1.000 0.040 4 99943207 intron variant G/A snv 6.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2015 2015
dbSNP: rs1001581
rs1001581
XRCC1
1.000 0.080 19 43561236 intron variant C/T snv 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1001703993
rs1001703993
PPOX
0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs1001703993
rs1001703993
PPOX
0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.010 1.000 1 2012 2012
dbSNP: rs1001703993
rs1001703993
PPOX
0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2012 2012