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: rs111265129
rs111265129
CUBN
1.000 0.080 10 16851333 missense variant T/C snv 3.3E-03 1.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs111299050
rs111299050
DNAJC24 ; DCDC1
1.000 0.080 11 31370815 missense variant A/G snv 4.3E-04 2.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs111367604
rs111367604
BARD1
1.000 0.080 2 214728927 missense variant C/A;G;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs112523432
rs112523432
PTPN14
1.000 0.080 1 214384776 missense variant T/C;G snv 4.0E-06; 5.9E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs112973609
rs112973609
TRIM29
1.000 0.080 11 120118309 missense variant G/A snv 2.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs113117391
rs113117391
RB1CC1
1.000 0.080 8 52628128 missense variant G/A snv 2.2E-04 2.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1131691044
rs1131691044
CHEK2
1.000 0.080 22 28711939 frameshift variant C/-;CC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1131691164
rs1131691164
ATM
0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1135401927
rs1135401927
BRCA2
0.882 0.200 13 32376691 frameshift variant -/A delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs113776284
rs113776284
DAW1
1.000 0.080 2 227893863 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1137887
rs1137887
ATM
0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs11571747
rs11571747
BRCA2
1.000 0.080 13 32371035 missense variant A/C snv 1.1E-03 1.5E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs11571769
rs11571769
BRCA2
1.000 0.080 13 32379413 missense variant G/A;T snv 9.5E-03 8.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs116076204
rs116076204
EPG5
1.000 0.080 18 45870626 missense variant G/A;C snv 7.1E-04; 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs11643870
rs11643870
WFDC1
1.000 0.080 16 84318346 missense variant G/A snv 8.8E-03 8.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1165078436
rs1165078436
SPOCD1
1.000 0.080 1 31798459 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1165723137
rs1165723137
CRX
1.000 0.080 19 47839489 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1165948169
rs1165948169
HDAC7
1.000 0.080 12 47798799 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs116967198
rs116967198
FAM210A
1.000 0.080 18 13681833 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs117403380
rs117403380
EXOC3L1
1.000 0.080 16 67188925 missense variant A/T snv 7.4E-03 7.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1180582304
rs1180582304
FAM217B
1.000 0.080 20 59944226 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1182821166
rs1182821166
VPS72 ; TMOD4
1.000 0.080 1 151176787 missense variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1183319975
rs1183319975
CLIP1
1.000 0.080 12 122288497 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0