LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Disease: HEM dysplasia ×
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: rs587777171
rs587777171 		1.000 0.080 1 225404452 missense variant T/C snv 4.0E-06
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 5 2003 2016
dbSNP: rs587777172
rs587777172 		1.000 0.080 1 225403403 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2003 2016
dbSNP: rs387906416
rs387906416 		0.925 0.120 1 225404486 stop gained TAGAAGA/CTTCTAG mnv
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs863223326
rs863223326 		0.925 0.120 1 225424041 frameshift variant ACCA/- del
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886037655
rs886037655 		1.000 0.080 1 225406745 frameshift variant A/- delins
CUI: C2931048
Disease: HEM dysplasia
HEM dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0