rs118203999, PALB2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 16 23623003 stop gained G/A snv 0.700 1.000 4 2007 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.925 0.200 16 23623003 stop gained G/A snv 0.700 1.000 3 2007 2011
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.925 0.200 16 23623003 stop gained G/A snv 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP N
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
13 0.925 0.200 16 23623003 stop gained G/A snv 0.700 0