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: rs4624820
rs4624820 		2 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.810 1.000 1 2009 2017
dbSNP: rs9905704
rs9905704
SEPTIN4-AS1
1 1.000 0.120 17 58555182 intron variant G/T snv 0.77 0.810 1.000 1 2013 2017
dbSNP: rs995030
rs995030
KITLG
7 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.720 1.000 2 2009 2019
dbSNP: rs11705932
rs11705932
TFDP2
1 1.000 0.120 3 142100008 intron variant C/T snv 0.20 0.710 1.000 1 2015 2017
dbSNP: rs4561483
rs4561483
BCAR4
1 1.000 0.120 16 11826180 intron variant A/G;T snv 0.710 1.000 1 2015 2017
dbSNP: rs55637647
rs55637647
ZFPM1
1 1.000 0.120 16 88482856 intron variant C/G snv 0.47 0.710 1.000 1 2015 2017
dbSNP: rs7107174
rs7107174
GAB2
1 1.000 0.120 11 78286890 intron variant C/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs7221274
rs7221274
PPM1E
1 1.000 0.120 17 58930767 intron variant A/G snv 0.38 0.710 1.000 1 2013 2013
dbSNP: rs10137185
rs10137185
ESR2
2 0.925 0.200 14 64309058 intron variant C/T snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs10146204
rs10146204 		2 1.000 0.120 14 64352051 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs11202586
rs11202586 		1 1.000 0.120 10 87852267 intergenic variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs11205
rs11205
HSD17B4
1 1.000 0.120 5 119526018 missense variant A/G snv 0.42 0.41 0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
dbSNP: rs12228415
rs12228415
ATF7IP
1 1.000 0.120 12 14367767 intron variant A/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs12434245
rs12434245
ESR2 ; SYNE2
1 1.000 0.120 14 64225135 intron variant C/T snv 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs12435857
rs12435857
ESR2
2 0.925 0.200 14 64256807 intron variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1355972653
rs1355972653
IFNGR2
3 0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs143384
rs143384
GDF5
3 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17198432
rs17198432 		1 1.000 0.120 2 175524333 intergenic variant C/A snv 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs2414099
rs2414099
CYP19A1 ; MIR4713HG
1 1.000 0.120 15 51256585 intron variant C/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs2978381
rs2978381
ESR2
3 0.925 0.160 14 64299934 intron variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs3751592
rs3751592
CYP19A1 ; MIR7973-2 ; MIR7973-1
2 0.925 0.200 15 51314381 intron variant T/C snv 0.31 0.010 1.000 1 2012 2012