rs5030821, VHL

N. diseases: 3
Source: INFERRED ×
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.
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.810 1.000 18 1994 2017
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 14 1994 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 1994 2016