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: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1554236040
rs1554236040
5 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
dbSNP: rs1555483699
rs1555483699
10 0.851 0.120 16 9768994 missense variant C/T snv 0.700 0
dbSNP: rs1555548678
rs1555548678
7 0.925 0.160 17 42216054 missense variant G/A snv 0.700 0
dbSNP: rs1555549674
rs1555549674
6 0.882 0.240 17 42223402 missense variant T/G snv 0.700 0
dbSNP: rs200473652
rs200473652
7 0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 0.700 0
dbSNP: rs374052333
rs374052333
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs387906760
rs387906760
13 0.790 0.200 2 190995184 missense variant C/T snv 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs759191907
rs759191907
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs780533096
rs780533096
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs886039903
rs886039903
6 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
dbSNP: rs886041094
rs886041094
7 0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 0.700 0
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.020 < 0.001 2 2013 2014
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 < 0.001 1 2018 2018
dbSNP: rs12568784
rs12568784
2 0.925 0.120 1 152350656 stop gained G/A;T snv 0.24 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs16833974
rs16833974
2 0.925 0.120 1 152354040 missense variant T/C snv 1.6E-02 6.1E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs2228428
rs2228428
2 0.925 0.120 3 32954436 synonymous variant C/T snv 0.25 0.23 0.010 < 0.001 1 2004 2004
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 < 0.001 1 2013 2013
dbSNP: rs3219177
rs3219177
2 0.925 0.120 19 7669483 intron variant C/T snv 0.20 0.19 0.010 < 0.001 1 2018 2018
dbSNP: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs712484
rs712484
3 0.882 0.160 14 48081576 intergenic variant C/A snv 0.14 0.010 < 0.001 1 2012 2012
dbSNP: rs7936562
rs7936562
4 0.882 0.160 11 76567214 intergenic variant T/C snv 0.59 0.010 < 0.001 1 2012 2012
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.040 0.500 4 2002 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013