Source: CLINVAR

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: rs1555284612
rs1555284612
BRCA2
1.000 0.080 13 32340610 frameshift variant ATCA/- delins
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.700 1.000 1 2004 2004
dbSNP: rs397507894
rs397507894
BRCA2
0.925 0.080 13 32354919 frameshift variant TT/-;TTT delins
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.700 1.000 1 2004 2004
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.700 1.000 1 2004 2004
dbSNP: rs397509072
rs397509072
BRCA1
0.925 0.080 17 43092059 stop gained C/A snv
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.700 0