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: rs11251942
rs11251942
LOC105376360
1 1.000 10 3554755 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs12586722
rs12586722 		2 1.000 14 70423423 downstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12938141
rs12938141
RAP1GAP2
1 1.000 17 3000998 intron variant T/A;G snv 0.700 1.000 1 2019 2019
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: rs140538758
rs140538758
CBFB
1 1.000 16 67082698 intron variant C/G snv 1.5E-02 0.700 1.000 1 2019 2019
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: rs190843378
rs190843378 		2 0.925 2 218841159 upstream gene variant C/T snv 1.3E-02 0.010 1.000 1 2017 2017
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: 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: 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: rs4717568
rs4717568 		1 1.000 7 70935714 regulatory region variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs4783673
rs4783673
CDH1
1 1.000 16 68758190 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs587150
rs587150 		1 1.000 6 167818409 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs6905370
rs6905370
ESR1
2 0.925 6 152005062 intron variant G/A snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs6938753
rs6938753
LINC01600 ; LINC02521
1 1.000 6 2634705 non coding transcript exon variant C/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs7082321
rs7082321
SFMBT2
1 1.000 10 7272478 intron variant C/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs73370840
rs73370840
SLC19A1 ; COL18A1
1 1.000 21 45497121 intron variant C/T snv 0.14 0.16 0.700 1.000 1 2019 2019
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: rs79116769
rs79116769
SLC25A4
1 1.000 4 185141891 upstream gene variant C/T snv 5.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs992531
rs992531 		1 1.000 8 23608232 intergenic variant G/A snv 8.5E-02 0.010 1.000 1 2018 2018
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 		5 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