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: rs10521467
rs10521467
PCSK5
1 0.925 0.080 9 76036575 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs117129097
rs117129097 		1 1.000 0.040 12 128054737 intron variant C/G;T snv 1.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs1216578110
rs1216578110
APP
1 1.000 0.040 21 25955652 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1264499143
rs1264499143
STUB1 ; JMJD8 ; LINC02867
1 1.000 0.040 16 681593 missense variant G/A snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs13133980
rs13133980
APBB2
1 1.000 0.040 4 41000929 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs13388459
rs13388459
LRRTM4 ; LRRTM4-AS1
1 1.000 0.040 2 76988371 intron variant C/T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2077823
rs2077823
LRRTM4
1 1.000 0.040 2 77021786 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs376158951
rs376158951
OTUD4
1 1.000 0.040 4 145162664 missense variant T/C snv 1.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs62043855
rs62043855
NEDD4
1 1.000 0.040 15 55915613 missense variant T/A;G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs62170897
rs62170897
LRRTM4
1 1.000 0.040 2 77031414 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs62171995
rs62171995
LRRTM4 ; LRRTM4-AS1
1 1.000 0.040 2 77001194 intron variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs6439886
rs6439886
CLSTN2
1 1.000 0.040 3 139963653 intron variant A/G snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs728524
rs728524
ESR1
1 1.000 0.040 6 151982302 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs754992211
rs754992211
SEPSECS
1 1.000 0.040 4 25124116 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs8179176
rs8179176
ESR1
1 1.000 0.040 6 151842199 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs863225300
rs863225300
NKX2-1 ; SFTA3 ; NKX2-1-AS1
1 0.925 0.280 14 36517960 stop gained G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs11030108
rs11030108
BDNF ; BDNF-AS
2 1.000 0.040 11 27673917 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs1157659
rs1157659 		2 1.000 0.040 11 27736075 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs115881343
rs115881343
TOMM40
2 1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs121434610
rs121434610
SMS
2 0.882 0.120 X 21967312 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1245342105
rs1245342105
SPTBN1
2 1.000 0.040 2 54622367 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1315695444
rs1315695444
SELP
2 1.000 0.040 1 169611580 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs13333659
rs13333659
CBFA2T3
2 1.000 0.040 16 88972472 intron variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1554948
rs1554948
TNK1
2 0.925 0.080 17 7383007 synonymous variant T/A;C snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1557372
rs1557372 		2 1.000 0.040 21 41460614 downstream gene variant C/T snv 0.40 0.010 1.000 1 2012 2012