rs5030821, VHL

N. diseases: 8
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.
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.810 1.000 26 1994 2017
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 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
6387 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 1994 2016
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.020 1.000 2 2009 2014
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2014 2014
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2014 2014
Teratoma
CUI: C0039538
Disease: Teratoma
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2004 2004