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: rs121909792
rs121909792
VDR
1.000 0.200 12 47846679 stop gained G/T snv 4.0E-06
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.700 0
dbSNP: rs121909795
rs121909795
VDR
1.000 0.200 12 47857512 stop gained G/A snv
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.700 0
dbSNP: rs121909802
rs121909802
VDR
1.000 0.200 12 47846374 stop gained C/A;T snv
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.700 0
dbSNP: rs886037890
rs886037890
VDR
0.925 0.200 12 47844840 missense variant T/G snv
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.700 0
dbSNP: rs121909801
rs121909801
VDR
0.925 0.200 12 47879026 stop gained G/A;C snv 1.6E-05
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.710 1.000 1 2017 2017
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
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: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2239181
rs2239181
VDR
0.925 0.120 12 47862166 intron variant A/C snv 0.12
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2012 2012
dbSNP: rs2239181
rs2239181
VDR
0.925 0.120 12 47862166 intron variant A/C snv 0.12
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2012 2012
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: 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: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2013 2013
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 1.000 1 2016 2016
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.010 < 0.001 1 2019 2019
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2016 2016
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: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2014 2014
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis 		0.010 1.000 1 2007 2007