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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2007 2019
dbSNP: rs62643364
rs62643364
7 0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 0.060 1.000 6 2000 2019
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.060 1.000 6 2012 2019
dbSNP: rs823118
rs823118
3 0.925 0.080 1 205754444 upstream gene variant C/A;T snv 0.730 0.833 6 2014 2020
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 1.000 6 2004 2017
dbSNP: rs11240572
rs11240572
1 1.000 0.040 1 205838885 intron variant C/A;T snv 0.730 1.000 5 2009 2016
dbSNP: rs1721100
rs1721100
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.050 0.800 5 2004 2018
dbSNP: rs591323
rs591323
1 1.000 0.040 8 16839582 intron variant G/A;C snv 0.730 1.000 5 2014 2018
dbSNP: rs74315351
rs74315351
6 0.807 0.080 1 7962863 missense variant G/A snv 0.050 0.600 5 2003 2016
dbSNP: rs1317187144
rs1317187144
GBA
4 0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06 0.040 1.000 4 2014 2018
dbSNP: rs1994090
rs1994090
2 1.000 0.040 12 40034759 intron variant G/A;T snv 0.810 1.000 4 2009 2016
dbSNP: rs2421947
rs2421947
2 1.000 0.040 1 171863954 intron variant C/G;T snv 0.040 0.750 4 2018 2019
dbSNP: rs35870237
rs35870237
9 0.763 0.120 12 40340404 missense variant T/C snv 0.040 1.000 4 2006 2014
dbSNP: rs3857059
rs3857059
2 1.000 0.040 4 89754087 intron variant A/G;T snv 0.710 1.000 4 2009 2016
dbSNP: rs74163686
rs74163686
2 0.925 0.040 12 40309225 missense variant A/C snv 0.040 1.000 4 2010 2019
dbSNP: rs763222239
rs763222239
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.040 1.000 4 2013 2015
dbSNP: rs11248051
rs11248051
GAK
2 1.000 0.040 4 864544 intron variant C/G;T snv 0.820 1.000 3 2010 2014
dbSNP: rs11343
rs11343
1 1.000 0.040 16 19268142 3 prime UTR variant T/C;G snv 0.710 1.000 3 2016 2019
dbSNP: rs116074753
rs116074753
2 1.000 0.040 2 232794835 missense variant A/C;G snv 3.9E-04; 8.0E-06 0.030 1.000 3 2009 2015
dbSNP: rs1799836
rs1799836
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.030 1.000 3 2011 2018
dbSNP: rs1801582
rs1801582
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.030 0.667 3 2003 2020
dbSNP: rs181489
rs181489
1 1.000 0.040 4 89713869 intron variant T/A;C snv 0.710 1.000 3 2011 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 0.667 3 2017 2020
dbSNP: rs2306604
rs2306604
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.030 1.000 3 2007 2013
dbSNP: rs2583988
rs2583988
2 0.925 0.080 4 89839677 non coding transcript exon variant C/A;T snv 0.720 1.000 3 2007 2012