FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Cutaneous leiomyoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499630
rs1060499630 		0.882 0.320 1 241513659 stop gained G/A snv
CUI: C0346064
Disease: Cutaneous leiomyoma
Cutaneous leiomyoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913121
rs121913121 		0.851 0.320 1 241513661 missense variant T/G snv
CUI: C0346064
Disease: Cutaneous leiomyoma
Cutaneous leiomyoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0