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: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
dbSNP: rs11669203
rs11669203
MAP2K7 ; TGFBR3L
4 0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1211164799
rs1211164799
DLX4
3 0.882 0.080 17 49973938 missense variant A/T snv 0.010 1.000 1 1998 1998
dbSNP: rs121908513
rs121908513
SPAST
6 0.807 0.280 2 32116145 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121908531
rs121908531
DNM1L ; YARS2
4 0.851 0.080 12 32731118 missense variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121909536
rs121909536
ANG ; RNASE4
5 0.827 0.120 14 20693686 missense variant A/T snv 1.2E-03 9.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs121909539
rs121909539
ANG ; RNASE4
5 0.827 0.120 14 20693753 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121912452
rs121912452
SOD1
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs121964884
rs121964884
AVP
4 0.851 0.200 20 3083005 stop gained G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs12442054
rs12442054 		3 0.882 0.080 15 74165683 intron variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs12587
rs12587
KRAS
5 0.827 0.200 12 25205894 3 prime UTR variant T/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1273925499
rs1273925499
MAPT
3 0.882 0.080 17 45991557 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs1285675735
rs1285675735
SORD
6 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1301478248
rs1301478248
CASP9
3 0.882 0.080 1 15495395 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs13034994
rs13034994
MYCNOS
3 0.882 0.080 2 15938513 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1362575880
rs1362575880
PSEN1
4 0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs137974312
rs137974312
CAMTA1
1 1.000 0.040 1 7738307 missense variant C/T snv 2.1E-03 1.3E-03 0.010 1.000 1 2007 2007
dbSNP: rs138085133
rs138085133
EXTL1 ; LOC101928216
3 0.882 0.080 1 26022729 missense variant C/G;T snv 8.4E-04; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs138686455
rs138686455
SLC11A2
4 0.851 0.120 12 51005330 missense variant C/G snv 3.6E-05 4.9E-05 0.010 1.000 1 2013 2013