rs1060499630, 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.
Cutaneous leiomyoma
CUI: C0346064
Disease: Cutaneous leiomyoma
2 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
90 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
59 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0