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: rs121909793
rs121909793
VDR
1.000 0.200 12 47865085 missense variant C/T snv
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 1.000 12 1988 2017
dbSNP: rs121909796
rs121909796
VDR
0.827 0.200 12 47846743 missense variant C/A snv
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 1.000 12 1988 2017
dbSNP: rs121909798
rs121909798
VDR
0.925 0.200 12 47846444 missense variant G/C snv
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 1.000 12 1988 2017
dbSNP: rs121909800
rs121909800
VDR
0.807 0.360 12 47844859 missense variant G/A;T snv
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 1.000 12 1988 2017
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.070 0.714 7 2009 2019
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.714 7 2009 2019
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.050 1.000 5 2008 2015
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.050 0.600 5 2015 2019
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2007 2018
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 1.000 4 2007 2018
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 1.000 4 2012 2018
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.040 1.000 4 2014 2018
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 0.667 3 2015 2019
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.030 1.000 3 2009 2015
dbSNP: rs121909800
rs121909800
VDR
0.807 0.360 12 47844859 missense variant G/A;T snv
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.030 1.000 3 1996 2017
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.030 1.000 3 2016 2019
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		0.030 1.000 3 2014 2018
dbSNP: rs739837
rs739837
VDR
0.882 0.200 12 47844438 3 prime UTR variant G/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 1.000 3 2014 2017
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2009 2011
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2008 2016
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2009 2011
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.020 1.000 2 2005 2018
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2008 2018
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs121909796
rs121909796
VDR
0.827 0.200 12 47846743 missense variant C/A snv
CUI: C0035579
Disease: Rickets
Rickets 		0.020 1.000 2 2002 2018