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: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs230530
rs230530
NFKB1
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs230525
rs230525
NFKB1
4 0.882 0.080 4 102537720 non coding transcript exon variant G/A snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs230496
rs230496
NFKB1
3 0.882 0.080 4 102567334 intron variant G/A snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs750521832
rs750521832
MMP8
14 0.732 0.200 11 102718452 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 0.500 2 2018 2019
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 0.500 2 2014 2015
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2014 2014
dbSNP: rs1302103336
rs1302103336
CHEK1
12 0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.020 1.000 2 2008 2014
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 1.000 2 2008 2014
dbSNP: rs3811741
rs3811741
PLK4
3 0.882 0.080 4 127882004 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs745501336
rs745501336
RAB43 ; ISY1-RAB43
3 0.882 0.080 3 129091263 missense variant C/T snv 4.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs756966085
rs756966085
DLC1
4 0.882 0.080 8 13090431 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs372894000
rs372894000
DLC1
4 0.882 0.080 8 13092766 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1330010954
rs1330010954
DLC1
4 0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018