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: rs1064795649
rs1064795649
BRIP1
2 1.000 0.120 17 61799205 frameshift variant CT/- delins 0.700 0
dbSNP: rs113954997
rs113954997
RRAS2
3 0.882 0.280 11 14294844 missense variant T/A;C snv 0.700 0
dbSNP: rs118203998
rs118203998
PALB2
11 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1199923024
rs1199923024
BRIP1
1 1.000 0.120 17 61683945 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
PIK3CA
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs121913322
rs121913322
STK11
4 0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04 0.700 0
dbSNP: rs121913340
rs121913340
BRAF
1 1.000 0.120 7 140753379 missense variant C/T snv 0.700 0
dbSNP: rs121913413
rs121913413
CTNNB1
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.700 0
dbSNP: rs121964872
rs121964872
CDH1
3 0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04 0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.700 0
dbSNP: rs1800726
rs1800726
BRCA1
1 1.000 0.120 17 43070993 missense variant C/G;T snv 0.700 0
dbSNP: rs1800751
rs1800751
BRCA1
5 0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1800757
rs1800757
BRCA1
1 1.000 0.120 17 43051069 missense variant G/A snv 0.700 0
dbSNP: rs273900729
rs273900729
BRCA1
2 0.925 0.160 17 43082529 missense variant A/G snv 0.700 0
dbSNP: rs28897701
rs28897701
BRCA2
2 0.925 0.160 13 32319232 missense variant G/C snv 2.6E-04 3.1E-04 0.700 0
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs35394823
rs35394823
DPH1 ; OVCA2
1 1.000 0.120 17 2040586 missense variant C/G snv 8.1E-02 6.8E-02 0.700 0
dbSNP: rs372000848
rs372000848
MRE11
1 1.000 0.120 11 94470575 missense variant G/A snv 5.2E-05 7.7E-05 0.700 0
dbSNP: rs41293521
rs41293521
BRCA2
2 0.925 0.160 13 32394724 missense variant T/C snv 2.9E-04 2.5E-04 0.700 0
dbSNP: rs4987046
rs4987046
BRCA2
4 0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03 0.700 0
dbSNP: rs55770810
rs55770810
BRCA1
10 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.800 0
dbSNP: rs56070345
rs56070345
BRCA2
1 1.000 0.120 13 32356497 missense variant G/A;C;T snv 6.4E-05 0.700 0
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs587781803
rs587781803
BRCA2
5 0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 0.700 0