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: rs80357678
rs80357678
BRCA1
5 0.851 0.200 17 43091614 frameshift variant AA/- del 0.700 0
dbSNP: rs80359011
rs80359011
BRCA2
4 0.882 0.200 13 32362574 stop gained G/A;C snv 0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359598
rs80359598
BRCA2
4 0.882 0.200 13 32340837 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs80359770
rs80359770
BRCA2
5 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs864622149
rs864622149
CHEK2
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs2290854
rs2290854
MDM4
2 0.925 0.080 1 204546897 intron variant A/G snv 0.65 0.57 0.810 1.000 1 2013 2013
dbSNP: rs11196174
rs11196174
TCF7L2
1 1.000 0.080 10 112974337 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs903263
rs903263
PRKACB ; LOC107985046
1 1.000 0.080 1 84156830 intron variant G/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs12118297
rs12118297 		2 0.925 0.080 1 87313534 intergenic variant G/T snv 0.19 0.710 1.000 1 2016 2016
dbSNP: rs13393577
rs13393577
ERBB4
4 0.851 0.120 2 212432139 intron variant T/C snv 0.10 0.710 1.000 1 2012 2012
dbSNP: rs140068132
rs140068132 		2 0.925 0.080 6 151633699 TF binding site variant A/G snv 1.1E-02 0.710 1.000 1 2014 2014
dbSNP: rs16992204
rs16992204
LINC00160 ; LOC107985515
2 0.925 0.080 21 34738904 upstream gene variant T/C snv 2.5E-02 0.710 < 0.001 1 2016 2016
dbSNP: rs2284378
rs2284378
RALY
4 0.851 0.080 20 34000289 intron variant T/C;G snv 0.710 < 0.001 1 2012 2012
dbSNP: rs2981575
rs2981575
FGFR2
4 0.882 0.120 10 121586602 intron variant G/A snv 0.54 0.710 1.000 1 2010 2010
dbSNP: rs4342822
rs4342822
PROX1-AS1 ; LOC105372912
3 0.882 0.080 1 213850882 intron variant G/T snv 0.62 0.710 1.000 1 2017 2017
dbSNP: rs4951011
rs4951011
ZC3H11A ; ZBED6
2 0.925 0.080 1 203797203 5 prime UTR variant A/G snv 0.14 0.710 1.000 1 2014 2014
dbSNP: rs80356898
rs80356898
BRCA1
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.710 1.000 1 2003 2003
dbSNP: rs80357474
rs80357474
BRCA1
5 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.710 1.000 1 2017 2017
dbSNP: rs8113308
rs8113308
ZNF613
2 0.925 0.080 19 51942133 intron variant T/C snv 0.24 0.710 1.000 1 2015 2015
dbSNP: rs10022462
rs10022462
PPM1K-DT
1 1.000 0.080 4 88322666 intron variant C/T snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs10096351
rs10096351
POU5F1B ; CASC8 ; PCAT1 ; CASC21
1 1.000 0.080 8 127359926 intron variant A/G snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs10169133
rs10169133
LINC01376
1 1.000 0.080 2 19212878 intron variant G/C;T snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs10269006
rs10269006 		1 1.000 0.080 7 94758031 intergenic variant G/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs1028842
rs1028842
RAD51B
1 1.000 0.080 14 68205006 intron variant C/A snv 0.17 0.700 1.000 1 2012 2012