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: rs12150079
rs12150079
ZPBP2
9 0.807 0.280 17 39869164 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs1250563
rs1250563
ZMIZ1
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs1465788
rs1465788
ZFP36L1
2 0.925 0.160 14 68796882 upstream gene variant T/C snv 0.70 0.800 1.000 1 2009 2009
dbSNP: rs927292
rs927292
ZFP36L1
3 1.000 0.120 14 68792124 intron variant C/G snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs61758388
rs61758388
XYLT1 ; LOC107987234
4 0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs1801208
rs1801208
WFS1
4 0.882 0.360 4 6301162 missense variant G/A snv 5.7E-02 5.0E-02 0.010 1.000 1 2000 2000
dbSNP: rs1805070
rs1805070
WFS1
1 1.000 0.120 4 6301953 missense variant A/C;G snv 1.4E-04; 7.3E-03 0.010 1.000 1 2000 2000
dbSNP: rs199946797
rs199946797
WFS1
3 0.882 0.360 4 6301467 missense variant C/A;T snv 6.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs734312
rs734312
WFS1
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.010 1.000 1 2000 2000
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs707928
rs707928
VWA7
5 0.827 0.320 6 31774813 intron variant A/G snv 0.47 0.700 1.000 1 2007 2007
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.050 1.000 5 2008 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 1.000 3 2012 2019
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 1.000 3 2008 2012
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 < 0.001 2 2013 2019
dbSNP: rs4516035
rs4516035
VDR
10 0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 0.020 1.000 2 2006 2017
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.020 0.500 2 2012 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs121909800
rs121909800
VDR
6 0.807 0.360 12 47844859 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1540339
rs1540339
VDR
1 1.000 0.120 12 47863543 intron variant C/T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs4760648
rs4760648
VDR
4 0.851 0.200 12 47886882 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs757343
rs757343
VDR
6 0.807 0.360 12 47845892 intron variant C/T snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs9729
rs9729
VDR
1 1.000 0.120 12 47842840 3 prime UTR variant G/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs4678
rs4678
VARS2
2 0.925 0.200 6 30926164 missense variant G/A snv 0.14 0.15 0.700 1.000 1 2007 2007