Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1565256477
rs1565256477
4 0.925 0.120 11 102955402 missense variant A/G snv 0.700 0
dbSNP: rs121909796
rs121909796
VDR
5 0.827 0.200 12 47846743 missense variant C/A snv 0.020 1.000 2 2002 2018
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs151340626
rs151340626
5 0.827 0.200 X 50085987 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2060793
rs2060793
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs222020
rs222020
GC
5 0.851 0.320 4 71770555 intron variant C/T snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs2239179
rs2239179
VDR
9 0.790 0.200 12 47863983 intron variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs2298849
rs2298849
GC
1 1.000 0.080 4 71783134 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2013 2013
dbSNP: rs61495246
rs61495246
2 0.925 0.200 11 14885847 missense variant A/G snv 2.4E-04 1.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2014 2014
dbSNP: rs797044808
rs797044808
2 0.925 0.200 X 50070025 stop gained C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2014 2014