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: rs121909790
rs121909790
VDR
1.000 0.200 12 47879016 missense variant C/G;T snv 4.0E-06
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 1.000 12 1988 2017
dbSNP: rs121909791
rs121909791
VDR
1.000 0.200 12 47865106 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.700 1.000 12 1988 2017
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: rs121909794
rs121909794
VDR
1.000 0.200 12 47865175 missense variant C/T snv 8.0E-06 2.1E-05
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: rs121909797
rs121909797
VDR
1.000 0.200 12 47878977 missense variant C/A;G;T snv 2.4E-05; 4.0E-06
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: rs121909799
rs121909799
VDR
0.925 0.200 12 47846418 missense variant A/C snv 5.4E-06
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: rs267607169
rs267607169
VDR
1.000 0.200 12 47844994 missense variant C/T snv 4.0E-06
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 1.000 12 1988 2017
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.800 10 2009 2019
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.800 10 2009 2019
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: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.050 1.000 5 2011 2018
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0004096
Disease: Asthma
Asthma 		0.050 1.000 5 2011 2020
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.050 1.000 5 2011 2018
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.050 1.000 5 2011 2018
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.050 0.600 5 2015 2019
dbSNP: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
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