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: rs12203592
rs12203592
IRF4
16 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.060 1.000 6 2010 2017
dbSNP: rs401681
rs401681
CLPTM1L
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.860 1.000 6 2010 2015
dbSNP: rs3219090
rs3219090
PARP1
1 1.000 0.040 1 226376990 intron variant T/C snv 0.58 0.820 1.000 2 2011 2013
dbSNP: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 2 2011 2019
dbSNP: rs4911442
rs4911442
NCOA6
1 1.000 0.040 20 34767243 intron variant G/A snv 0.93 0.720 1.000 2 2008 2014
dbSNP: rs10231520
rs10231520
ABCB5
1 1.000 0.040 7 20742471 intron variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs10515789
rs10515789
EBF1
1 1.000 0.040 5 159079407 intron variant T/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs10754833
rs10754833
NID1
4 0.851 0.040 1 236021631 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs10757257
rs10757257
MTAP
3 0.882 0.080 9 21806565 intron variant G/A snv 0.34 0.710 1.000 1 2009 2012
dbSNP: rs10830253
rs10830253
TYR
1 0.851 0.080 11 89294875 intron variant T/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10951982
rs10951982
RAC1
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1155563
rs1155563
GC
2 0.925 0.080 4 71777771 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs12418451
rs12418451
LOC338694 ; LOC105369366
3 0.882 0.080 11 69167951 intron variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs12621278
rs12621278
ITGA6
6 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs132985
rs132985
PLA2G6
2 0.827 0.120 22 38167464 intron variant C/T snv 0.51 0.710 1.000 1 2009 2012
dbSNP: rs1351383
rs1351383
PSMB9 ; TAP1
1 1.000 0.040 6 32854492 intron variant A/C snv 0.43 0.010 < 0.001 1 2013 2013
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1639679
rs1639679
BRAF
1 1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
16 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs17817117
rs17817117
ABCB5
1 1.000 0.040 7 20685203 intron variant G/C snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs187843643
rs187843643
LINC02218
1 1.000 0.040 5 17453974 intron variant C/T snv 3.9E-03 0.710 1.000 1 2017 2017
dbSNP: rs1990330
rs1990330
TEAD4
2 0.925 0.080 12 3038296 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2074560
rs2074560
MX2
2 0.925 0.040 21 41380411 intron variant A/G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2107301
rs2107301
VDR
7 0.807 0.120 12 47861787 intron variant G/A snv 0.26 0.010 < 0.001 1 2012 2012