PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N ×
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: rs118203997
rs118203997 		1.000 0.120 16 23634893 stop gained A/G;T snv
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118203998
rs118203998 		0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118203999
rs118203999 		0.925 0.200 16 23623003 stop gained G/A snv
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs180177085
rs180177085 		0.925 0.200 16 23636151 frameshift variant A/- del 8.0E-06
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs180177092
rs180177092 		0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs180177100
rs180177100 		0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs180177113
rs180177113 		1.000 0.120 16 23629760 frameshift variant -/AG ins
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs180177116
rs180177116 		1.000 0.120 16 23629269 frameshift variant T/- delins
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs180177133
rs180177133 		0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs515726073
rs515726073 		1.000 0.120 16 23634869 frameshift variant TT/C;T delins
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587776419
rs587776419 		0.882 0.200 16 23624008 splice donor variant C/A;G;T snv
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs757369748
rs757369748 		0.882 0.200 16 23638072 stop gained G/A;T snv 4.0E-06
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0