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: rs2266788
rs2266788
ZPR1 ; APOA5
19 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs814698
rs814698
ZNF618
2 1.000 0.080 9 113967563 intron variant A/T snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2009 2009
dbSNP: rs491567
rs491567
WDR72
4 1.000 0.080 15 53654396 intron variant A/C snv 0.34 0.700 1.000 2 2010 2012
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2012
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1365501228
rs1365501228
VEGFA
2 1.000 0.080 6 43770732 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs771561387
rs771561387
VEGFA
2 1.000 0.080 6 43784557 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.730 0.800 5 2010 2018
dbSNP: rs12922822
rs12922822
UMOD
5 1.000 0.040 16 20356323 upstream gene variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4293393
rs4293393
UMOD
8 0.827 0.200 16 20353266 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs1156619081
rs1156619081
UCP3
1 11 74005787 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1318525693
rs1318525693
UCP3
1 11 74006370 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs45539933
rs45539933
UCP1
5 0.882 0.280 4 140567914 missense variant C/T snv 8.7E-02 7.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs46522
rs46522
UBE2Z
8 0.807 0.120 17 48911235 non coding transcript exon variant C/T snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 2 2010 2012
dbSNP: rs157580
rs157580
TOMM40
14 0.882 0.160 19 44892009 intron variant G/A snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs3134069
rs3134069
TNFRSF11B ; COLEC10
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1564858
rs1564858
TNFRSF11B
1 8 118932927 splice region variant G/A snv 0.11 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1232013698
rs1232013698
TNF
1 6 31577208 missense variant G/T snv 4.1E-06 0.010 1.000 1 2009 2009
dbSNP: rs102274
rs102274
TMEM258
3 1.000 0.080 11 61790354 non coding transcript exon variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2011 2011