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: rs121909799
rs121909799
VDR
0.925 0.200 12 47846418 missense variant A/C snv 5.4E-06
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.010 1.000 1 1996 1996
dbSNP: rs121909801
rs121909801
VDR
0.925 0.200 12 47879026 stop gained G/A;C snv 1.6E-05
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		0.010 1.000 1 1998 1998
dbSNP: rs199620286
rs199620286
VDR
1.000 0.040 12 47857193 missense variant T/A snv 5.2E-05 2.8E-05
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2005 2005
dbSNP: rs121909800
rs121909800
VDR
0.807 0.360 12 47844859 missense variant G/A;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2006 2006
dbSNP: rs121909800
rs121909800
VDR
0.807 0.360 12 47844859 missense variant G/A;T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.010 1.000 1 2006 2006
dbSNP: rs121909800
rs121909800
VDR
0.807 0.360 12 47844859 missense variant G/A;T snv
CUI: C2363065
Disease: Vitamin D-resistant rickets
Vitamin D-resistant rickets 		0.010 1.000 1 2006 2006
dbSNP: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0740421
Disease: Postsurgical menopause
Postsurgical menopause 		0.010 1.000 1 2006 2006
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2006 2006
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C0740421
Disease: Postsurgical menopause
Postsurgical menopause 		0.010 1.000 1 2006 2006
dbSNP: rs9729
rs9729
VDR
1.000 0.120 12 47842840 3 prime UTR variant G/C;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2006 2006
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
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2007 2007
dbSNP: rs11568820
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs2107301
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2007 2007
dbSNP: rs2107301
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs2238135
rs2238135
VDR
0.882 0.160 12 47884407 intron variant C/G snv 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs2238135
rs2238135
VDR
0.882 0.160 12 47884407 intron variant C/G snv 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2007 2007
dbSNP: rs731236
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2007 2007
dbSNP: rs749140677
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs749140677
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2007 2007
dbSNP: rs749140677
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007