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: rs779741278
rs779741278
BRIP1
2 0.925 0.240 17 61683805 frameshift variant -/A delins 4.0E-06 0.700 1.000 4 2010 2016
dbSNP: rs1555618709
rs1555618709
BRIP1
3 0.925 0.240 17 61861461 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs587780236
rs587780236
BRIP1
4 0.882 0.280 17 61743118 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1567542146
rs1567542146
TP53
1 1.000 0.120 17 7670694 frameshift variant -/A ins 0.700 0
dbSNP: rs1567549651
rs1567549651
TP53
1 1.000 0.120 17 7674248 frameshift variant -/A delins 0.700 0
dbSNP: rs1567550002
rs1567550002
TP53
1 1.000 0.120 17 7674281 frameshift variant -/A delins 0.700 0
dbSNP: rs1567797787
rs1567797787
BRCA1
1 1.000 0.120 17 43093628 frameshift variant -/A delins 0.700 0
dbSNP: rs730881939
rs730881939
RAD51C
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 0
dbSNP: rs111970895
rs111970895 		1 1.000 0.120 5 102301953 upstream gene variant -/AAA;AAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs80357516
rs80357516
BRCA1
4 0.882 0.200 17 43093653 frameshift variant -/ACTA delins 0.700 0
dbSNP: rs67164370
rs67164370
RASSF2
4 0.851 0.120 20 4787830 intron variant -/AGGGACT ins 0.010 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2015
dbSNP: rs587781985
rs587781985
BRIP1
4 0.882 0.280 17 61780342 frameshift variant -/C ins 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1267047192
rs1267047192
TP53
1 1.000 0.120 17 7675997 frameshift variant -/C delins 0.700 0
dbSNP: rs1558664251
rs1558664251
MSH6 ; FBXO11
1 1.000 0.120 2 47800084 frameshift variant -/C ins 0.700 0
dbSNP: rs768793789
rs768793789
RAD51C
2 0.925 0.120 17 58696811 frameshift variant -/C delins 0.700 0
dbSNP: rs1567551279
rs1567551279
TP53
1 1.000 0.120 17 7674879 frameshift variant -/CACAC delins 0.700 0
dbSNP: rs1195793509
rs1195793509
TP53
1 1.000 0.120 17 7676210 stop gained -/CATT delins 0.700 0
dbSNP: rs1567546889
rs1567546889
TP53
1 1.000 0.120 17 7673711 frameshift variant -/CCCC delins 0.700 0
dbSNP: rs10674174
rs10674174 		1 1.000 0.120 13 61317942 intergenic variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs1564801750
rs1564801750
PTEN ; KLLN
1 1.000 0.120 10 87864512 frameshift variant -/G delins 0.700 0
dbSNP: rs1566766719
rs1566766719
FANCM
1 1.000 0.120 14 45176757 frameshift variant -/G ins 0.700 0
dbSNP: rs1567556454
rs1567556454
TP53
1 1.000 0.120 17 7676144 frameshift variant -/G delins 0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 0
dbSNP: rs886040423
rs886040423
BRCA2
2 0.925 0.120 13 32336752 frameshift variant -/G delins 0.700 0