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: rs1965673
rs1965673
WWC1
1 1.000 0.200 5 168411232 intron variant C/G snv 6.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs7753873
rs7753873
WAKMAR2 ; LOC107986649
3 0.882 0.320 6 137852285 intron variant A/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs9494885
rs9494885
WAKMAR2 ; LOC107986649
3 0.882 0.320 6 137851611 intron variant T/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2004 2004
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2013 2013
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs4936742
rs4936742
UBASH3B
2 0.925 0.200 11 122770378 intron variant T/C snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs3825427
rs3825427
UBAC2-AS1
1 1.000 0.200 13 99196717 non coding transcript exon variant C/A snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs7999348
rs7999348
UBAC2
1 1.000 0.200 13 99280668 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs9513584
rs9513584
UBAC2
1 1.000 0.200 13 99224027 intron variant G/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs9517668
rs9517668
UBAC2
1 1.000 0.200 13 99271586 intron variant T/A snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs9517701
rs9517701
UBAC2
1 1.000 0.200 13 99377286 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs2234237
rs2234237
TREM1
9 0.763 0.280 6 41282728 missense variant T/A snv 0.13 0.12 0.010 1.000 1 2011 2011
dbSNP: rs3789205
rs3789205
TREM1
1 1.000 0.200 6 41286177 intron variant A/G snv 9.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs9471535
rs9471535
TREM1
5 0.851 0.240 6 41287752 upstream gene variant T/C snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs10863888
rs10863888
TRAF5
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs13210247
rs13210247
TRAF3IP2 ; TRAF3IP2-AS1
3 0.882 0.280 6 111601517 non coding transcript exon variant A/G snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs2280714
rs2280714
TNPO3
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 < 0.001 1 2009 2009
dbSNP: rs1234313
rs1234313
TNFSF4
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1234315
rs1234315
TNFSF4
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2003 2003
dbSNP: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2005 2005
dbSNP: rs886039866
rs886039866
TNFRSF1A
1 1.000 0.200 12 6333376 missense variant G/A snv 0.700 0