rs144848, BRCA2

N. diseases: 29
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.
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
Oligospermia
CUI: C0028960
Disease: Oligospermia
72 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2003 2003