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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 2000 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.727 11 2004 2016
dbSNP: rs2279744
rs2279744
MDM2
47 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 1.000 2 2015 2015
dbSNP: rs7008482
rs7008482
NSMCE2
5 0.882 0.120 8 125255388 intron variant T/G snv 0.48 0.020 1.000 2 2007 2012
dbSNP: rs10432782
rs10432782
SOD1
7 0.807 0.160 21 31664078 intron variant T/G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs10459592
rs10459592
CYP19A1 ; MIR4713HG
2 0.925 0.080 15 51243944 intron variant T/G snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs10788165
rs10788165 		2 0.925 0.080 10 121284700 regulatory region variant T/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs11096957
rs11096957
TLR10
7 0.790 0.160 4 38774870 missense variant T/G snv 0.42 0.41 0.010 1.000 1 2008 2008
dbSNP: rs11556218
rs11556218
IL16
26 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2012 2012
dbSNP: rs118004742
rs118004742
EFCAB13
2 0.925 0.080 17 47391492 stop gained T/G snv 4.4E-02 4.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1184094026
rs1184094026
RASSF1
2 0.925 0.080 3 50331675 missense variant T/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs13112099
rs13112099
UGT2B15
2 0.925 0.080 4 68672015 upstream gene variant T/G snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs1800872
rs1800872
IL10 ; IL19
118 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
92 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs20576
rs20576
TNFRSF10A
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2008 2008
dbSNP: rs2297480
rs2297480
FDPS
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2017 2017
dbSNP: rs2387084
rs2387084 		2 0.925 0.080 16 74054192 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs2705897
rs2705897
CASP3
4 0.925 0.080 4 184631944 splice region variant T/G snv 0.64 0.73 0.010 1.000 1 2018 2018
dbSNP: rs3136534
rs3136534 		6 0.807 0.240 4 122448621 downstream gene variant T/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs4148269
rs4148269
UGT2B15
3 0.882 0.080 4 68647129 missense variant T/G snv 0.55 0.49 0.010 1.000 1 2013 2013
dbSNP: rs4473733
rs4473733
GUSBP1
2 0.925 0.080 5 21567711 intron variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs62113214
rs62113214
KLK3
2 0.925 0.080 19 50859281 intron variant T/G snv 4.9E-02 0.010 < 0.001 1 2011 2011