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: rs118203998
rs118203998 		0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		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: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs118203999
rs118203999 		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
dbSNP: rs180177092
rs180177092 		0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs180177097
rs180177097 		0.882 0.080 16 23635519 stop gained G/A snv
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs180177097
rs180177097 		0.882 0.080 16 23635519 stop gained G/A snv
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177100
rs180177100 		0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs180177102
rs180177102 		1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177111
rs180177111 		0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177132
rs180177132 		0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177133
rs180177133 		0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs180177133
rs180177133 		0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C4551489
Disease: Ureter duplex
Ureter duplex 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs180177135
rs180177135 		0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		0.700 0
dbSNP: rs180177138
rs180177138 		0.925 0.080 16 23603523 frameshift variant C/- delins
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs180177142
rs180177142 		0.925 0.080 16 23638106 frameshift variant C/- del
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs180177143
rs180177143 		0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs515726065
rs515726065 		0.925 0.080 16 23635232 frameshift variant T/- delins
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0