FLVCR2, FLVCR heme transporter 2, 55640

N. diseases: 23; N. variants: 7
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: rs267606822
rs267606822 		1.000 0.080 14 75639419 missense variant C/G;T snv
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs267606824
rs267606824 		1.000 0.080 14 75633653 missense variant C/T snv
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs267606825
rs267606825 		0.925 0.160 14 75641008 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs267606823
rs267606823 		1.000 0.080 14 75624639 missense variant C/G snv 2.0E-05 7.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2010 2010
dbSNP: rs138495705
rs138495705 		1.000 0.080 14 75579445 stop gained C/A;T snv 2.0E-05
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs759296326
rs759296326 		1.000 0.080 14 75579374 stop gained C/G snv 8.0E-06 7.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs780523767
rs780523767 		1.000 0.080 14 75641062 splice donor variant T/C snv 4.0E-06; 4.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267606825
rs267606825 		0.925 0.160 14 75641008 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016