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: rs1800747
rs1800747
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
Hereditary Breast and Ovarian Cancer Syndrome
0.700 1.000 5 2002 2016
dbSNP: rs1800747
rs1800747
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 1.000 3 1990 2016
dbSNP: rs1800747
rs1800747
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs1800747
rs1800747
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0
dbSNP: rs1800747
rs1800747
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0