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: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2014 2015
dbSNP: rs246246
rs246246
ADAMTS19
3 0.925 0.080 5 129721066 intron variant G/T snv 0.94 0.710 1.000 2 2009 2013
dbSNP: rs3847153
rs3847153 		2 0.925 0.080 8 100800928 intergenic variant A/G snv 0.13 0.810 1.000 2 2012 2014
dbSNP: rs1001164504
rs1001164504
FIGLA
1 1.000 0.080 2 70790637 start lost A/G snv 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs104894765
rs104894765
BMP15
2 0.925 0.160 X 50916132 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1049127
rs1049127
LAG3
2 0.925 0.080 12 6777854 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10521496
rs10521496
DIAPH2
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs1057516159
rs1057516159
FOXL2 ; FOXL2NB
6 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1060505055
rs1060505055
MSH5 ; MSH5-SAPCD1
2 0.925 0.080 6 31759476 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs11077
rs11077
POLR1C ; XPO5
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs11668344
rs11668344
TMEM150B
4 0.925 0.120 19 55322296 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1209004897
rs1209004897
BRCA1
1 1.000 0.080 17 43094660 missense variant A/C snv 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs12611091
rs12611091
BRSK1
2 0.925 0.080 19 55288961 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs13172105
rs13172105
ADAMTS16 ; LOC101929200
2 0.925 0.080 5 5289469 intron variant A/C;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1321108
rs1321108
TSHB
2 0.925 0.080 1 115029744 upstream gene variant A/G snv 0.42 0.010 < 0.001 1 2014 2014
dbSNP: rs135029
rs135029
TIMP3 ; SYN3
2 0.925 0.080 22 32844303 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1375722963
rs1375722963
PGRMC1
2 0.925 0.080 X 119243222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1376736747
rs1376736747
FSHR
1 1.000 0.080 2 49068268 stop gained G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140106399
rs140106399
FSHR
1 1.000 0.080 2 48962622 3 prime UTR variant A/G snv 7.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs1435998287
rs1435998287
SF1
2 0.925 0.080 11 64778294 synonymous variant C/T snv 1.4E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs155979
rs155979
PCSK1 ; LOC101929710
2 0.925 0.080 5 96434194 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1569788
rs1569788
ESR1
2 0.925 0.080 6 152007481 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1611114
rs1611114
DBH
3 0.882 0.120 9 133635081 upstream gene variant C/T snv 0.31 0.010 1.000 1 2014 2014