PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: TUMOR PREDISPOSITION SYNDROME ×
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: rs587782443
rs587782443 		0.925 0.080 16 23636320 frameshift variant T/- delins 4.1E-06 7.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs587782570
rs587782570 		0.925 0.080 16 23623033 frameshift variant -/T delins 4.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0