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: rs142697907
rs142697907
PTPN14
1 1.000 1 214510163 intron variant A/G snv 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs2051579
rs2051579
RBFOX2
1 1.000 22 35835310 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2456773
rs2456773
CDK1
1 1.000 10 60787260 intron variant C/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs370815401
rs370815401
UGT2B17
1 1.000 4 68537650 missense variant G/C;T snv 1.5E-05 2.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs4783673
rs4783673
CDH1
1 1.000 16 68758190 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs6788895
rs6788895
SIAH2
1 0.882 0.080 3 150750021 intron variant G/T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs741581
rs741581
PPARGC1B
1 1.000 5 149823222 intron variant G/A snv 6.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs992531
rs992531 		1 1.000 8 23608232 intergenic variant G/A snv 8.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs12998806
rs12998806
LOC101928278 ; LOC105373874
2 0.925 2 217029040 intergenic variant G/A snv 0.18 0.710 1.000 1 2016 2016
dbSNP: rs13267382
rs13267382
LINC00536
2 0.882 0.080 8 116197325 intron variant A/G snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs190843378
rs190843378 		2 0.925 2 218841159 upstream gene variant C/T snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs250108
rs250108
FGF1 ; SPRY4-AS1
2 0.925 5 142614908 intron variant G/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs6796502
rs6796502 		2 0.882 0.080 3 46825376 downstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6905370
rs6905370
ESR1
2 0.925 6 152005062 intron variant G/A snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs192876988
rs192876988
LOC105377300
3 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2268578
rs2268578
LUM
3 0.882 0.080 12 91107421 intron variant A/G snv 0.71 0.010 1.000 1 2008 2008
dbSNP: rs2823093
rs2823093 		3 0.882 0.080 21 15148511 intergenic variant G/A snv 0.32 0.010 1.000 1 2012 2012
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 2015 2015
dbSNP: rs7874234
rs7874234
TSC1
3 0.882 0.040 9 132937614 intron variant C/T snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs865686
rs865686
LOC105376214
4 0.851 0.080 9 108126198 regulatory region variant G/A;T snv 0.020 1.000 2 2012 2015
dbSNP: rs10771399
rs10771399 		4 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs10822013
rs10822013
ZNF365
4 0.851 0.080 10 62492218 intron variant C/T snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs1292011
rs1292011
LOC105370003
4 0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs13689
rs13689
CDH1
4 0.851 0.120 16 68834619 3 prime UTR variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1432679
rs1432679
EBF1
4 0.851 0.080 5 158817075 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016