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: rs587776416
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2014 2017
dbSNP: rs587776416
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 5 2014 2016
dbSNP: rs587776416
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 3 2014 2014
dbSNP: rs587776416
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs587776416
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.700 0