FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer ×
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: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060499642
rs1060499642 		0.925 0.320 1 241504087 stop gained C/A snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913120
rs121913120 		0.925 0.320 1 241513680 stop gained G/A snv 7.0E-06
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913122
rs121913122 		0.925 0.320 1 241504123 stop gained G/A snv 4.0E-06
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398123160
rs398123160 		1.000 0.160 1 241502553 stop gained G/A snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398123166
rs398123166 		0.925 0.320 1 241508781 stop gained G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs727503927
rs727503927 		1.000 0.160 1 241504083 stop gained A/T snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs797044974
rs797044974 		1.000 0.160 1 241502469 stop gained C/A snv 4.0E-06
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs863223980
rs863223980 		0.925 0.320 1 241517310 stop gained G/A snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs863224013
rs863224013 		1.000 0.160 1 241517292 stop gained C/A;T snv 4.0E-06
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039368
rs886039368 		1.000 0.160 1 241497861 stop gained C/T snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913123
rs121913123 		0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.800 1.000 5 1994 2015
dbSNP: rs121913119
rs121913119 		0.925 0.320 1 241504066 missense variant C/G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 1.000 3 1994 2015
dbSNP: rs121913121
rs121913121 		0.851 0.320 1 241513661 missense variant T/G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.800 1.000 3 1994 2015
dbSNP: rs863224015
rs863224015 		1.000 0.160 1 241511983 missense variant T/C snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 1.000 3 1994 2015
dbSNP: rs779707997
rs779707997 		0.925 0.320 1 241511968 missense variant T/C;G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.800 1.000 2 2013 2015
dbSNP: rs387906546
rs387906546 		0.925 0.240 1 241517258 missense variant T/G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs773382103
rs773382103 		1.000 0.160 1 241508634 missense variant G/A snv 4.0E-06
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1060499636
rs1060499636 		1.000 0.160 1 241508610 missense variant A/C;G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060499638
rs1060499638 		1.000 0.160 1 241506087 missense variant C/G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060499643
rs1060499643 		1.000 0.160 1 241502561 missense variant T/A;C snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs200004220
rs200004220 		0.925 0.320 1 241500572 missense variant A/G snv 7.3E-06
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398123159
rs398123159 		0.925 0.320 1 241504130 missense variant A/T snv 1.2E-05
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398123168
rs398123168 		0.925 0.320 1 241504198 missense variant G/A snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs75086406
rs75086406 		1.000 0.160 1 241513679 missense variant C/G;T snv 1.2E-04
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 0