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: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		0.010 1.000 1 2016 2016
dbSNP: rs749140677
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		0.010 1.000 1 2009 2009
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs1310678797
rs1310678797
VDR
0.882 0.120 12 47857143 missense variant C/T snv 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1989969
rs1989969
VDR
0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2018 2018
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.010 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: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.010 1.000 1 2018 2018
dbSNP: rs1310678797
rs1310678797
VDR
0.882 0.120 12 47857143 missense variant C/T snv 7.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs121909800
rs121909800
VDR
0.807 0.360 12 47844859 missense variant G/A;T snv
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 1.000 1 2017 2017
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: rs377423996
rs377423996
VDR
0.851 0.280 12 47845002 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 1.000 1 2017 2017
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: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2014 2014
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs4334089
rs4334089
VDR
0.925 0.080 12 47892232 intron variant G/A snv 0.36
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2014 2014
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2015 2015
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.010 1.000 1 2014 2014
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.010 1.000 1 2016 2016