rs562533120, HBS1L

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.
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.010 1.000 1 2018 2018
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
38 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.010 1.000 1 2015 2015
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.020 1.000 2 2015 2018