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: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2016 2018
dbSNP: rs587777230
rs587777230
PIGX ; CEP19
3 0.851 0.120 3 196707811 stop gained G/A snv 2.1E-05 0.020 0.500 2 2017 2018
dbSNP: rs10487818
rs10487818
NAMPT
1 1.000 0.080 7 106269615 intron variant A/T snv 1.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs1064891
rs1064891
PFKFB3
2 0.925 0.080 10 6234611 3 prime UTR variant T/C snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs12510549
rs12510549 		1 0.882 0.160 4 10274843 intergenic variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs1322837244
rs1322837244
QPCTL
2 0.925 0.080 19 45698622 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1800949
rs1800949
ENPP1
1 1.000 0.080 6 131807424 upstream gene variant C/G;T snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs1805192
rs1805192
PPARG
117 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs199951903
rs199951903
CYTB ; ND6
2 0.925 0.120 MT 15497 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs2239607
rs2239607
ACACB
3 0.925 0.120 12 109209475 intron variant A/G snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs2268388
rs2268388
ACACB
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs4148325
rs4148325
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs564343
rs564343
PACS1
2 0.925 0.080 11 66127695 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs6013029
rs6013029
CTNNBL1
2 0.882 0.160 20 37771178 intron variant G/T snv 0.12 0.010 1.000 1 2009 2009
dbSNP: rs6020846
rs6020846
CTNNBL1
2 0.925 0.080 20 37777265 intron variant A/G snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs6449213
rs6449213
SLC2A9 ; LOC105374476
3 0.827 0.240 4 9992591 intron variant C/T snv 0.82 0.010 1.000 1 2008 2008
dbSNP: rs7001819
rs7001819
LOC105379243
2 0.925 0.080 8 11792966 upstream gene variant T/C snv 0.35 0.010 < 0.001 1 2009 2009
dbSNP: rs7566605
rs7566605
LOC107985940
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 1.000 1 2008 2008
dbSNP: rs917346005
rs917346005
CADM2
2 0.925 0.080 3 85912502 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs943003
rs943003
ENPP1
3 0.882 0.120 6 131819872 non coding transcript exon variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs9930506
rs9930506
FTO
9 0.776 0.360 16 53796553 intron variant A/G snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs9932411
rs9932411
FTO
1 1.000 0.080 16 53971251 intron variant C/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs9939609
rs9939609
FTO
80 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs757139012
rs757139012
SIM1
3 0.882 0.080 6 100390522 missense variant T/C snv 8.0E-06; 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs746906443
rs746906443
MC4R
2 0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012