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: rs1555283169
rs1555283169
BRCA2
1.000 13 32337677 stop gained A/T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1555283169
rs1555283169
BRCA2
1.000 13 32337677 stop gained A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0