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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs3830738
rs3830738
TNRC6B
2 1.000 22 40315223 intron variant -/T delins 0.22 0.700 1.000 1 2019 2019
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
3 0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs10929757
rs10929757
GREB1
2 1.000 2 11562535 missense variant A/C snv 0.54 0.44 0.700 1.000 1 2018 2018
dbSNP: rs148143917
rs148143917
GREB1
2 1.000 2 11524625 intron variant A/C snv 9.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs183241934
rs183241934
SCFD2
2 1.000 4 53140760 intron variant A/C snv 5.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs2131371
rs2131371
LOC100288798
3 1.000 12 46402739 intron variant A/C snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs779682021
rs779682021
CYP1A1
5 0.882 0.120 15 74721227 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs58400555
rs58400555
ZNF346
2 1.000 5 177027080 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3756712
rs3756712
PDCD6 ; AHRR
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12484776
rs12484776
TNRC6B
2 1.000 22 40256869 intron variant A/G snv 0.19 0.820 1.000 3 2011 2018
dbSNP: rs7986407
rs7986407
FOXO1
4 0.882 0.120 13 40605661 intron variant A/G snv 0.38 0.700 1.000 2 2018 2019
dbSNP: rs10508765
rs10508765 		2 1.000 10 31679855 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1065827
rs1065827 		1 16 65949614 intergenic variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs10976689
rs10976689
LOC105375949
2 1.000 9 804886 intergenic variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs1182554992
rs1182554992
ESR1
1 6 151880688 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs200960801
rs200960801
ESR1
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3087869
rs3087869
COMT
1 22 19953984 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs4360450
rs4360450
SLC7A3
2 1.000 X 70926548 synonymous variant A/G snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs4944957
rs4944957
NADSYN1
2 1.000 0.080 11 71456989 intron variant A/G snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs528311784
rs528311784
COMT ; MIR4761
1 22 19962807 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs55819434
rs55819434
BABAM2
2 1.000 2 28110242 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs6058017
rs6058017
AHCY ; ASIP
2 20 34269192 3 prime UTR variant A/G snv 0.15 0.29 0.010 1.000 1 2014 2014
dbSNP: rs8191246
rs8191246
HSD17B2
2 1.000 0.080 16 82098435 stop lost A/G snv 1.3E-02 1.9E-02 0.010 1.000 1 2012 2012