Source: BEFREE ×
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: rs121908377
rs121908377
FOXP2
3 1.000 0.120 7 114662075 missense variant G/A snv 0.810 1.000 1 2001 2017
dbSNP: rs121908378
rs121908378
FOXP2
2 1.000 0.120 7 114642616 stop gained C/T snv 0.710 1.000 1 2005 2012
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2004 2004
dbSNP: rs1433722257
rs1433722257
FOXP1
1 1.000 0.120 3 70972170 missense variant C/A;T snv 1.6E-05; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1466535
rs1466535
LRP1
9 0.790 0.160 12 57140687 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs563378859
rs563378859
TP53
8 0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs6003
rs6003
F13B
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.010 1.000 1 2015 2015
dbSNP: rs6725189
rs6725189 		2 0.925 0.120 2 20996129 downstream gene variant G/T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs693
rs693
APOB
17 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2018 2018
dbSNP: rs75391579
rs75391579
GALT
5 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs761606953
rs761606953
FOXP1
1 1.000 0.120 3 70972053 missense variant C/T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs780936436
rs780936436
POT1
2 0.925 0.240 7 124863547 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs797045586
rs797045586
FOXP1
1 0.925 0.120 3 70972666 missense variant C/T snv 0.010 1.000 1 2017 2017