FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Uterine Fibroids ×
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: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 0
dbSNP: rs121913121
rs121913121 		0.851 0.320 1 241513661 missense variant T/G snv
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 0
dbSNP: rs863224007
rs863224007 		0.882 0.320 1 241502490 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 1.000 1 2005 2005