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
Vitamin D-Dependent Rickets, Type 2A
0.800 1.000 12 1988 2017
dbSNP: rs121909793
rs121909793
VDR
1.000 0.200 12 47865085 missense variant C/T snv
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
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
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
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
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
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
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
Vitamin D-Dependent Rickets, Type 2A
0.800 1.000 12 1988 2017
dbSNP: rs121909801
rs121909801
VDR
0.925 0.200 12 47879026 stop gained G/A;C snv 1.6E-05
Vitamin D-Dependent Rickets, Type 2A
0.710 1.000 1 2017 2017
dbSNP: rs121909791
rs121909791
VDR
1.000 0.200 12 47865106 missense variant C/T snv 3.6E-05 3.5E-05
Vitamin D-Dependent Rickets, Type 2A
0.700 1.000 12 1988 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
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
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
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: rs121909792
rs121909792
VDR
1.000 0.200 12 47846679 stop gained G/T snv 4.0E-06
Vitamin D-Dependent Rickets, Type 2A
0.700 0
dbSNP: rs121909795
rs121909795
VDR
1.000 0.200 12 47857512 stop gained G/A snv
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
Vitamin D-Dependent Rickets, Type 2A
0.700 0