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: rs1057518636
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057518636
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1057518636
rs1057518636
BRCA1
1.000 17 43047646 frameshift variant -/A ins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0