Source: CURATED

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: rs118203999
rs118203999
PALB2
0.925 0.200 16 23623003 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2007 2014
dbSNP: rs118203999
rs118203999
PALB2
0.925 0.200 16 23623003 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 3 2007 2011
dbSNP: rs118203999
rs118203999
PALB2
0.925 0.200 16 23623003 stop gained G/A snv
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		0.700 0
dbSNP: rs118203999
rs118203999
PALB2
0.925 0.200 16 23623003 stop gained G/A snv
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0