rs149364097, BRIP1

N. diseases: 3
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 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 10 2005 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
141 0.925 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 5 2005 2016
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
9 0.925 0.120 17 61801348 missense variant C/A;G;T snv 1.6E-05 0.700 0