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: rs397508057
rs397508057
BRCA2
1 1.000 0.080 13 32319103 missense variant T/C snv 0.700 1.000 20 1997 2006
dbSNP: rs398122784
rs398122784
BRCA2
1 1.000 0.080 13 32339094 missense variant G/A snv 0.700 1.000 20 1997 2006
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 20 1994 2017
dbSNP: rs56046357
rs56046357
BRCA1
1 1.000 0.080 17 43094148 missense variant A/T snv 7.0E-06 0.700 1.000 20 1994 2017
dbSNP: rs587782190
rs587782190
BRCA1
3 0.882 0.200 17 43091731 stop gained A/C;G snv 7.0E-06 0.700 1.000 20 1994 2017
dbSNP: rs786202389
rs786202389
BRCA1
1 1.000 0.080 17 43057091 missense variant G/C snv 0.700 1.000 20 1994 2017
dbSNP: rs786203152
rs786203152
BRCA1 ; NBR2
1 1.000 0.080 17 43124086 missense variant G/A snv 0.700 1.000 20 1994 2017
dbSNP: rs80356890
rs80356890
BRCA1
4 0.882 0.200 17 43067629 missense variant T/C snv 0.700 1.000 20 1994 2017
dbSNP: rs80356913
rs80356913
BRCA1
7 0.851 0.200 17 43106456 missense variant C/A;G;T snv 0.700 1.000 20 1994 2017
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
3 0.925 0.080 17 43124044 missense variant A/C;G;T snv 0.700 1.000 20 1994 2017
dbSNP: rs80357061
rs80357061
BRCA1
4 0.882 0.200 17 43067616 missense variant A/C;G snv 0.700 1.000 20 1994 2017
dbSNP: rs80357094
rs80357094
BRCA1
2 0.925 0.080 17 43063881 missense variant G/C;T snv 0.700 1.000 20 1994 2017
dbSNP: rs80357227
rs80357227
BRCA1
3 0.882 0.200 17 43057113 missense variant T/A;C snv 0.700 1.000 20 1994 2017
dbSNP: rs80357281
rs80357281
BRCA1
4 0.882 0.200 17 43051104 missense variant A/G snv 0.700 1.000 20 1994 2017
dbSNP: rs80357306
rs80357306
BRCA1
1 1.000 0.080 17 43082563 missense variant T/C snv 0.700 1.000 20 1994 2017
dbSNP: rs80357390
rs80357390
BRCA1
4 0.882 0.200 17 43070950 missense variant G/A snv 0.700 1.000 20 1994 2017
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
5 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 1.000 20 1994 2017
dbSNP: rs80357463
rs80357463
BRCA1
4 0.882 0.200 17 43051098 missense variant A/C;T snv 0.700 1.000 20 1994 2017
dbSNP: rs876660828
rs876660828
BRCA2
1 1.000 0.080 13 32332770 missense variant C/A;T snv 0.700 1.000 20 1997 2006
dbSNP: rs879254042
rs879254042
BRCA1
1 1.000 0.080 17 43070963 missense variant A/G snv 0.700 1.000 20 1994 2017
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.100 0.632 19 2002 2019
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.800 1.000 17 2008 2016
dbSNP: rs4973768
rs4973768
SLC4A7
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.800 1.000 15 2009 2019
dbSNP: rs3817198
rs3817198
LSP1
8 0.790 0.280 11 1887776 intron variant T/C snv 0.26 0.800 0.929 14 2007 2017
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.100 1.000 11 2007 2020