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: rs71310379
rs71310379
PIK3CA
1 3 179199003 missense variant C/A snv 4.4E-05 4.2E-05 0.020 1.000 2 2013 2015
dbSNP: rs1053129
rs1053129
DHFR
1 5 80626901 3 prime UTR variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10964859
rs10964859
IFNW1
1 9 21140673 3 prime UTR variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs10964862
rs10964862 		1 9 21151554 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1317052311
rs1317052311
VEGFD ; PIR-FIGF
1 X 15358134 missense variant C/A snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs1472189
rs1472189
DKK3
1 11 11962338 3 prime UTR variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs148626207
rs148626207
NFKB1 ; LOC105377347
1 4 102612593 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs200246209
rs200246209
MMP7
1 11 102527789 synonymous variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs2375801
rs2375801
MTNR1A
1 4 186550471 intron variant T/C snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs2994809
rs2994809
REG4
1 1 119809354 intron variant T/C snv 0.91 0.010 1.000 1 2013 2013
dbSNP: rs3206652
rs3206652
CD47
1 3 108046402 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs370006648
rs370006648
NDN
1 15 23687168 missense variant G/A snv 4.1E-05 7.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs377767422
rs377767422
RET
1 10 43119635 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs3804639
rs3804639
CD47
1 3 108071988 intron variant G/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs684559
rs684559
CHI3L2
1 1 111215824 intron variant G/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs756160717
rs756160717
RAF1
1 3 12585204 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs7795743
rs7795743
EGFR ; EGFR-AS1
1 7 55182437 non coding transcript exon variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs779724499
rs779724499
ITGA5 ; LOC102724050
1 12 54411885 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs867748453
rs867748453
BRAF
1 7 140781608 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs946486
rs946486
ABL1
1 9 130770618 intron variant C/T snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs9879947
rs9879947
CD47
1 3 108046545 3 prime UTR variant G/A snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs10420252
rs10420252
COX6B1
2 1.000 0.080 19 35648270 upstream gene variant G/A snv 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs11246050
rs11246050
NLRP6
2 1.000 0.080 11 284257 synonymous variant G/A;C snv 0.16; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
2 1.000 0.040 17 39725161 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1156560901
rs1156560901
CDK15
2 2 201880120 missense variant A/G snv 1.4E-05 0.010 1.000 1 2014 2014