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: rs10011025
rs10011025
GLRA3
1 1.000 0.120 4 174733072 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.020 0.500 2 2006 2018
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
5 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.810 1.000 1 2007 2017
dbSNP: rs10181656
rs10181656
STAT4
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2008 2008
dbSNP: rs10186193
rs10186193
RNASEH1
1 1.000 0.120 2 3550384 synonymous variant T/C snv 0.33 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1020856343
rs1020856343
SLC22A5
5 0.851 0.240 5 132393705 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1022059218
rs1022059218
ICOS ; LOC101927840
2 0.925 0.200 2 203936863 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs1023934247
rs1023934247
PRF1
1 1.000 0.120 10 70598292 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs10272724
rs10272724 		4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs10336
rs10336
CXCL9 ; LOC101928809
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2008 2008
dbSNP: rs1048990
rs1048990
PSMA6
7 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1050152
rs1050152
SLC22A4 ; MIR3936HG
9 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.020 1.000 2 2006 2008
dbSNP: rs10509540
rs10509540
RNLS ; LOC101929727
1 0.925 0.160 10 88263276 upstream gene variant T/C snv 0.25 0.810 1.000 1 2009 2012
dbSNP: rs1055271
rs1055271
MIOX
1 1.000 0.120 22 50489911 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1063856
rs1063856
VWF
11 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.050 1.000 5 2008 2015
dbSNP: rs10741657
rs10741657
CYP2R1
32 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 < 0.001 1 2007 2007
dbSNP: rs10758593
rs10758593
GLIS3
5 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.710 0.500 1 2011 2017
dbSNP: rs10766196
rs10766196
CYP2R1
2 0.925 0.120 11 14891585 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
4 0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40 0.010 1.000 1 2013 2013
dbSNP: rs10774671
rs10774671
OAS1
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.030 0.667 3 2006 2009
dbSNP: rs10811661
rs10811661 		19 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2013 2013