rs786203714, 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 23635095 stop gained A/T snv 0.700 1.000 1 2017 2017
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.925 0.200 16 23635095 stop gained A/T snv 0.700 0
Generalized hypopigmentation
CUI: C1849923
Disease: Generalized hypopigmentation
1 0.925 0.200 16 23635095 stop gained A/T snv 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.925 0.200 16 23635095 stop gained A/T snv 0.700 0