PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: bilateral breast cancer ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs62625284
rs62625284 		1.000 0.080 16 23603592 missense variant A/G;T snv 1.7E-04; 8.0E-06
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs869312772
rs869312772 		0.925 0.080 16 23635383 frameshift variant G/-;GG delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs75023630
rs75023630 		1.000 0.080 16 23635054 missense variant C/A;T snv 4.8E-04
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019