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: rs886037786
rs886037786
BRCA1
1.000 17 43094231 frameshift variant -/G delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs886037787
rs886037787
BRCA1
1.000 17 43092961 stop gained A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs886037790
rs886037790
BRCA1
1.000 17 43071202 frameshift variant A/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057518636
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1060505051
rs1060505051
BRCA1
1.000 17 43091883 frameshift variant AAGTT/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1555581104
rs1555581104
BRCA1
1.000 17 43071235 frameshift variant CC/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs397509160
rs397509160
BRCA1
1.000 17 43082474 stop gained G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs886040109
rs886040109
BRCA1
1.000 17 43092265 frameshift variant A/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0