Source: ALL

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: rs11574121
rs11574121
VDR
12 47844145 3 prime UTR variant G/A snv 1.5E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11574121
rs11574121
VDR
12 47844145 3 prime UTR variant G/A snv 1.5E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs117913411
rs117913411
VDR
12 47860570 intron variant T/A snv 3.2E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
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: rs7970314
rs7970314
VDR
12 47914391 intron variant A/G snv 0.41
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		0.010 1.000 1 2018 2018
dbSNP: rs7979360
rs7979360
VDR
12 47904009 intron variant A/G snv 0.14
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7979360
rs7979360
VDR
12 47904009 intron variant A/G snv 0.14
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: rs7311856
rs7311856
VDR
0.925 0.040 12 47927916 intron variant A/G snv 0.32
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs7311856
rs7311856
VDR
0.925 0.040 12 47927916 intron variant A/G snv 0.32
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 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: 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: 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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2014 2014
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: 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
dbSNP: rs4334089
rs4334089
VDR
0.925 0.080 12 47892232 intron variant G/A snv 0.36
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2013 2014
dbSNP: rs11168314
rs11168314
VDR
0.925 0.080 12 47936846 intron variant G/A snv 0.23
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2010 2010
dbSNP: rs11168314
rs11168314
VDR
0.925 0.080 12 47936846 intron variant G/A snv 0.23
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010
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: rs11574049
rs11574049
VDR
1.000 0.080 12 47878732 intron variant A/G snv 1.6E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.700 1.000 1 2009 2009