rs121913121, FH

N. diseases: 6
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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
Cutaneous leiomyoma
CUI: C0346064
Disease: Cutaneous leiomyoma
2 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
90 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
59 0.851 0.320 1 241513661 missense variant T/G snv 0.800 1.000 3 1994 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.320 1 241513661 missense variant T/G snv 0.700 1.000 11 2002 2016