Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs357564
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs4988349
rs4988349
BRIP1
0.925 0.080 17 61784279 missense variant T/A snv 3.6E-05 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs730881496
rs730881496
BRCA1
0.925 0.080 17 43063340 missense variant A/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs747200104
rs747200104
ERBB2
0.925 0.080 17 39717388 missense variant C/A;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs749518684
rs749518684
CEBPD
0.925 0.080 8 47737362 missense variant C/A;G;T snv 2.7E-05; 4.5E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs762202654
rs762202654
CSHL1 ; GH1 ; LOC112268204
0.882 0.160 17 63917377 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs786201704
rs786201704
BRCA2
0.925 0.080 13 32338618 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs80356898
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 1.000 1 2003 2003
dbSNP: rs80359130
rs80359130
BRCA2
0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs878853582
rs878853582
BRCA2
0.925 0.080 13 32338616 missense variant T/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs747504890
rs747504890
BCL2
0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2002 2004
dbSNP: rs1043210477
rs1043210477
GPX1
0.701 0.520 3 49358250 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs1048945
rs1048945
APEX1 ; OSGEP
0.851 0.120 14 20456008 missense variant G/C snv 2.1E-02 2.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs10901425
rs10901425
MMP21
0.851 0.200 10 125773956 missense variant A/G snv 0.76 0.78
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs1302297709
rs1302297709
RAD51C
0.882 0.080 17 58703319 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs16941
rs16941
BRCA1
0.827 0.240 17 43092418 missense variant T/C;G snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs206340
rs206340
BRCA2
0.925 0.080 13 32391173 intron variant G/A snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs486907
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs4986854
rs4986854
BRCA1
0.925 0.080 17 43071031 missense variant A/G snv 1.5E-03 9.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs751377893
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs761872690
rs761872690
PGR ; PGR-AS1
0.925 0.080 11 101128246 synonymous variant G/A snv 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs80356886
rs80356886
BRCA1
0.925 0.080 17 43091520 missense variant G/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs80356920
rs80356920
BRCA1
0.925 0.080 17 43047699 stop gained A/T snv 9.9E-05 2.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs80358561
rs80358561
BRCA2
0.851 0.200 13 32319323 stop gained T/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004