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: rs7086803
rs7086803
VTI1A
9 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.710 1.000 2 2015 2019
dbSNP: rs12265047
rs12265047
VTI1A
1 1.000 0.080 10 112728166 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2010 2012
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 2013 2013
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.020 1.000 2 2008 2016
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.020 1.000 2 2008 2018
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2016 2016
dbSNP: rs1423493595
rs1423493595
UBE2V1 ; TMEM189-UBE2V1
5 0.851 0.080 20 50082836 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2847153
rs2847153
TYMS
3 0.925 0.080 18 661647 intron variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1273957629
rs1273957629
TSC2
1 1.000 0.080 16 2076130 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs30259
rs30259
TSC2
1 1.000 0.080 16 2083900 intron variant C/T snv 6.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs1801173
rs1801173
TP73
5 0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18 0.010 1.000 1 2011 2011
dbSNP: rs2273953
rs2273953
TP73
5 0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs4488809
rs4488809
TP63
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs7631358
rs7631358
TP63
4 0.851 0.080 3 189630622 upstream gene variant G/A snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs779179533
rs779179533
TP63
2 1.000 0.080 3 189808322 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs2602141
rs2602141
TP53BP1
9 0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2006 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2006 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2006 2018
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2013 2019