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: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 < 0.001 2 2013 2019
dbSNP: rs757343
rs757343
VDR
0.807 0.360 12 47845892 intron variant C/T snv 0.12
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 < 0.001 2 2012 2019
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: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.010 < 0.001 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 < 0.001 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		0.010 < 0.001 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 < 0.001 1 2014 2014
dbSNP: rs2107301
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2012 2012
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: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 < 0.001 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0013595
Disease: Eczema
Eczema 		0.010 < 0.001 1 2013 2013
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		0.010 < 0.001 1 2012 2012
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.010 < 0.001 1 2013 2013
dbSNP: rs4760655
rs4760655
VDR
1.000 0.120 12 47900348 intron variant G/A snv 0.72
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 < 0.001 1 2011 2011
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 < 0.001 1 2019 2019
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 < 0.001 1 2011 2011
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 < 0.001 1 2019 2019
dbSNP: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 < 0.001 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.040 0.250 4 2011 2013
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.030 0.333 3 2016 2019
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.030 0.333 3 2016 2019