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: rs7040024
rs7040024
DMRT1
4 0.925 0.120 9 845516 intron variant A/C;G snv 0.700 1.000 2 2017 2017
dbSNP: rs1009647
rs1009647
ATG14
2 1.000 0.120 14 55413329 upstream gene variant G/A snv 0.24 0.700 1.000 1 2017 2017
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: rs10275045
rs10275045
MAD1L1
5 0.882 0.160 7 1881190 intron variant C/T snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs11155671
rs11155671
KATNA1
1 1.000 0.120 6 149650996 upstream gene variant G/A snv 0.46 0.700 1.000 1 2017 2017
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: rs11769858
rs11769858 		1 1.000 0.120 7 158708801 upstream gene variant T/C snv 0.60 0.700 1.000 1 2017 2017
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
3 0.925 0.200 14 64256807 intron variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs12481572
rs12481572
ZFP64 ; LOC105372664
1 1.000 0.120 20 52091515 intron variant A/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs1267543
rs1267543
TEX14 ; LOC107985048
1 1.000 0.120 17 58579263 intron variant A/G snv 0.78 0.700 1.000 1 2013 2013
dbSNP: rs12912292
rs12912292 		1 1.000 0.120 15 55746509 upstream gene variant G/A snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs17153755
rs17153755
GATA4
1 1.000 0.120 8 11753991 intron variant C/G snv 0.34 0.700 1.000 1 2017 2017
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: rs17336718
rs17336718
TKTL1
1 1.000 0.120 X 154307767 intron variant C/T snv 4.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17689040
rs17689040
LOC105375242
1 1.000 0.120 7 40880714 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2241024
rs2241024
LINC00662
1 1.000 0.120 19 27766485 intron variant G/A snv 0.15 0.700 1.000 1 2017 2017
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: rs2713206
rs2713206
TFCP2L1
1 1.000 0.120 2 121250365 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
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: rs34601376
rs34601376 		1 1.000 0.120 19 23868026 intron variant A/T snv 0.14 0.700 1.000 1 2017 2017