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: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs1713239
rs1713239
2 1.000 0.040 1 206864130 upstream gene variant G/C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs2740574
rs2740574
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 1.000 1 2014 2014
dbSNP: rs4334089
rs4334089
VDR
3 0.925 0.080 12 47892232 intron variant G/A snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs7970314
rs7970314
VDR
1 12 47914391 intron variant A/G snv 0.41 0.010 1.000 1 2018 2018