rs121913123, FH

N. diseases: 4
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 Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
59 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.800 1.000 5 1994 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 1.000 10 2002 2015
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
90 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 1.000 8 2002 2012
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2011 2011