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: rs1114167435
rs1114167435
1 1.000 0.080 3 37025932 frameshift variant AG/- delins 0.700 0
dbSNP: rs1339756947
rs1339756947
1 1.000 0.080 17 21303189 missense variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs1554298756
rs1554298756
1 1.000 0.080 7 5989891 frameshift variant C/- del 0.700 0
dbSNP: rs989026404
rs989026404
1 1.000 0.080 17 21304500 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs5029748
rs5029748
2 0.925 0.080 8 42283031 intron variant G/T snv 0.22 0.020 1.000 2 2010 2013
dbSNP: rs10450310
rs10450310
2 0.925 0.080 10 52764898 downstream gene variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1060503118
rs1060503118
2 0.925 0.080 7 5987422 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs10958713
rs10958713
2 0.925 0.080 8 42323198 intron variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs11625206
rs11625206
2 0.925 0.080 14 70727436 3 prime UTR variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs11832059
rs11832059
VDR
2 0.925 0.080 12 47879066 missense variant A/C;G snv 4.0E-06; 1.9E-03 0.010 1.000 1 2009 2009
dbSNP: rs11923427
rs11923427
2 0.925 0.080 3 12622336 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1238788540
rs1238788540
2 0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs12485716
rs12485716
2 0.925 0.080 3 122260843 intron variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs12490683
rs12490683
2 0.925 0.080 3 75329934 non coding transcript exon variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs12497343
rs12497343
2 0.925 0.080 3 75330074 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1287152741
rs1287152741
2 0.925 0.080 5 80633984 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1323151304
rs1323151304
2 0.925 0.080 12 132643933 frameshift variant TA/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1365611
rs1365611
2 0.925 0.080 4 174462542 intergenic variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1390282714
rs1390282714
2 0.925 0.080 22 21769233 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1425164489
rs1425164489
2 0.925 0.080 22 30617374 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1450640054
rs1450640054
2 0.925 0.080 7 45921122 missense variant T/C snv 1.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs147740818
rs147740818
2 0.925 0.200 7 55142324 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs17109924
rs17109924
2 0.925 0.080 12 71584007 missense variant T/C snv 7.4E-02 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1724120
rs1724120
2 0.925 0.080 2 96143592 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs17250717
rs17250717
2 0.925 0.080 3 122261339 intron variant G/T snv 7.4E-02 0.010 1.000 1 2017 2017