Source: CURATED

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: rs10520699
rs10520699
PRC1 ; PRC1-AS1
1.000 0.080 15 90979736 intron variant G/A snv 8.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs1114167806
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs11852999
rs11852999
PRC1 ; PRC1-AS1
1.000 0.080 15 90971530 intron variant C/T snv 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs121913121
rs121913121
FH
0.851 0.320 1 241513661 missense variant T/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs121918279
rs121918279
EXT2
0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs137853007
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs1555283031
rs1555283031
BRCA2
0.925 0.080 13 32337423 frameshift variant ACAT/- del
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs1555616176
rs1555616176
BRIP1
0.925 0.080 17 61849196 frameshift variant T/- del
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs180177133
rs180177133
PALB2
0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs376603775
rs376603775
ATM
0.925 0.280 11 108304801 stop gained C/A;T snv 2.0E-05 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs397507990
rs397507990
BRCA2
0.925 0.080 13 32370999 frameshift variant AA/-;AAA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs587782471
rs587782471
CHEK2
0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs755009196
rs755009196
ATM ; C11orf65
0.925 0.160 11 108332024 missense variant C/G snv 1.6E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs759363072
rs759363072
BMPR1A
0.882 0.160 10 86917188 stop gained C/G;T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs769240800
rs769240800
PALB2
0.925 0.120 16 23638116 stop gained A/C snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs772821016
rs772821016
ATM
0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs775248597
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs777741666
rs777741666
ATM ; C11orf65
0.925 0.080 11 108327759 splice donor variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0