PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
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: rs152451
rs152451
1.000 0.080 16 23634870 missense variant T/A;C snv 0.10
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs45551636
rs45551636
1.000 0.080 16 23622972 missense variant C/G;T snv 1.6E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015