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: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs12998806
rs12998806
LOC101928278 ; LOC105373874
2 0.925 2 217029040 intergenic variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2009 2009
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: rs13074711
rs13074711 		1 1.000 3 172550013 regulatory region variant T/C snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs4973768
rs4973768
SLC4A7
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs6796502
rs6796502 		3 0.882 0.080 3 46825376 downstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2011 2016
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
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: rs6596100
rs6596100
HSPA4
2 0.925 0.080 5 133071366 intron variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs981782
rs981782
HCN1
4 0.851 0.080 5 45285616 intron variant A/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.020 1.000 2 2011 2014
dbSNP: rs3020314
rs3020314
ESR1
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6905370
rs6905370
ESR1
2 0.925 6 152005062 intron variant G/A snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs13267382
rs13267382
LINC00536
3 0.882 0.080 8 116197325 intron variant A/G snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.010 1.000 1 2012 2012
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 0.010 1.000 1 2012 2012
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.020 1.000 2 2011 2013
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: rs10995190
rs10995190
ZNF365
4 0.882 0.080 10 62518923 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs16917302
rs16917302
ZNF365
5 0.851 0.080 10 62501439 intron variant A/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs704010
rs704010
ZMIZ1
4 0.851 0.080 10 79081391 intron variant T/C snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs2059614
rs2059614
PKNOX2
1 1.000 11 125389528 intron variant A/G snv 5.3E-02 0.010 1.000 1 2015 2015