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: rs11574010
rs11574010
VDR
1.000 0.080 12 47905119 intron variant C/T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs11574077
rs11574077
VDR
1.000 0.080 12 47859144 intron variant T/C snv 3.3E-02
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs11574079
rs11574079
VDR
1.000 0.080 12 47858947 intron variant C/T snv 1.7E-03
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs12721377
rs12721377
VDR
1.000 0.080 12 47901568 intron variant T/C snv 2.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2016 2016
dbSNP: rs1380207149
rs1380207149
VDR
1.000 0.080 12 47855743 missense variant G/C;T snv 4.0E-06
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 1.000 1 2010 2010
dbSNP: rs145438594
rs145438594
VDR
1.000 0.080 12 47879073 missense variant C/G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2015 2015
dbSNP: rs148368146
rs148368146
VDR
1.000 0.040 12 47865163 missense variant C/G;T snv 6.4E-05
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous 		0.010 1.000 1 2010 2010
dbSNP: rs1540339
rs1540339
VDR
1.000 0.120 12 47863543 intron variant C/T snv 0.34
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2013 2013
dbSNP: rs17878969
rs17878969
VDR
1.000 12 47842624 3 prime UTR variant TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT delins
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2008 2008
dbSNP: rs199620286
rs199620286
VDR
1.000 0.040 12 47857193 missense variant T/A snv 5.2E-05 2.8E-05
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2005 2005
dbSNP: rs2189480
rs2189480
VDR
1.000 0.040 12 47870045 intron variant G/T snv 0.36
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2019 2019
dbSNP: rs2189480
rs2189480
VDR
1.000 0.040 12 47870045 intron variant G/T snv 0.36
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 < 0.001 1 2019 2019
dbSNP: rs2853559
rs2853559
VDR
1.000 0.040 12 47889022 intron variant A/G snv 0.68
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2011 2011
dbSNP: rs3819545
rs3819545
VDR
1.000 0.080 12 47871223 intron variant A/G snv 0.36
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs4760655
rs4760655
VDR
1.000 0.120 12 47900348 intron variant G/A snv 0.72
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 < 0.001 1 2011 2011
dbSNP: rs755850200
rs755850200
VDR
1.000 0.040 12 47846347 missense variant T/C snv 2.1E-05 7.0E-06
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs755850200
rs755850200
VDR
1.000 0.040 12 47846347 missense variant T/C snv 2.1E-05 7.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2008 2008
dbSNP: rs773329096
rs773329096
VDR
1.000 0.200 12 47865077 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.010 1.000 1 2010 2010
dbSNP: rs778638622
rs778638622
VDR
1.000 0.080 12 47844786 missense variant G/C snv 4.0E-06
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 1.000 1 2017 2017
dbSNP: rs7975128
rs7975128
VDR
1.000 0.040 12 47852045 intron variant G/A snv 0.34
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs7976091
rs7976091
VDR
1.000 0.040 12 47910769 intron variant C/T snv 0.38
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs7976091
rs7976091
VDR
1.000 0.040 12 47910769 intron variant C/T snv 0.38
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2014 2014
dbSNP: rs968728714
rs968728714
VDR
1.000 0.080 12 47904629 start lost A/G;T snv 1.5E-05; 7.4E-06
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs9729
rs9729
VDR
1.000 0.120 12 47842840 3 prime UTR variant G/C;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2006 2006
dbSNP: rs2238136
rs2238136
VDR
0.925 0.080 12 47883930 intron variant C/T snv 0.20
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2012 2014