rs180177135, PALB2

N. diseases: 27
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 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 1.000 5 2007 2016
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 1.000 3 2007 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 1.000 3 2009 2014
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Abnormality of limbs
CUI: C1387925
Disease: Abnormality of limbs
1 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Bilateral Carcinoma
CUI: C1332549
Disease: Bilateral Carcinoma
1 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Bilateral Malignant Neoplasm
CUI: C0677861
Disease: Bilateral Malignant Neoplasm
1 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Congenital atresia of colon
CUI: C0266190
Disease: Congenital atresia of colon
3 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Enlarged kidney
CUI: C0542518
Disease: Enlarged kidney
2 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP N
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
13 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Femoral bowing
CUI: C1859461
Disease: Femoral bowing
13 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Large fontanelle
CUI: C0456132
Disease: Large fontanelle
3 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Limb joint contracture
CUI: C1969879
Disease: Limb joint contracture
1 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Noninfiltrating Intraductal Carcinoma
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
13 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0